PVS1
Not assessed: the reference base at c.3647 is G, not the submitted A, so the gene, consequence, and NMD prediction remain unresolved.
PS1
Not assessed: no previously established pathogenic variant at the same residue could be identified, since the variant's position is unconfirmed (reference base at c.3647 is G, not A).
PS2
Not assessed: no proband de novo observation or documented parental-testing result was available.
PS3
Not assessed: no validated functional assay evidence was available for this variant.
PS4
Not assessed: no case-control enrichment data were available because the variant's gene and genomic position could not be resolved.
PM1
Not assessed: the variant's residue is unconfirmed (reference base at c.3647 is G, not A), so hotspot or domain membership could not be evaluated.
PM2
Not assessed: no population database evidence established that the variant is absent or rare in the general population.
PM3
Not assessed: no proband, phase, or trans/cis observations were available to support a recessive mechanism.
PM4
Not assessed: no protein consequence or length change could be established while the c.3647 reference mismatch (G, not A) is unresolved.
PM5
Not assessed: no different missense change at the same residue established as pathogenic was available, and the residue itself is unconfirmed.
PM6
Not assessed: no case report of an apparently de novo variant without confirmed parental testing was available.
PP1
Not assessed: no family segregation observations (affected relatives or informative meioses) were available.
PP2
Not assessed: the gene is unresolved (reference base at c.3647 is G, not A), so its benign missense rate could not be evaluated.
PP3
Not assessed: no consequence or computational prediction could be evaluated because the submitted change does not match the reference (c.3647 is G, not A).
PP4
Not assessed: no gene or patient phenotype context was available, so phenotype specificity could not be judged.
PP5
Not assessed: no ClinVar expert-panel Pathogenic or Likely pathogenic record for this exact variant was available.