PS1
Not assessed: no distinct pathogenic nucleotide change producing p.Gly396Asp was documented in the reviewed evidence.
PS2
Not assessed: no documented proband-parent genotypes or confirmed de novo status are available for c.1187G>A.
PS4
Not assessed: the available odds ratio 6.87 applies to c.1103G>A, not the assessed c.1187G>A variant, so exact-variant enrichment is unavailable.
PM2
Not met: the non-cancer exome allele frequency is 0.00295109, exceeding the PM2 threshold of 0.0001.
PM3
Not assessed: PMID:19506731 describes biallelic G396D cell lines but documents no affected proband, pathogenic allele in trans, or phase.
PM5
Not assessed: no distinct pathogenic missense substitution at residue 396 was documented, and the comparator search returned zero candidates.
PM6
Not assessed: no plausible unconfirmed de novo occurrence of c.1187G>A is reported in the available evidence.
PP1
Not assessed: no informative relatives, genotypes, phenotypes, or meioses are reported for segregation of c.1187G>A.
PP2
Not assessed: no validated MUTYH gene-level missense-enrichment or low-benign-missense metric was available for PP2.
PP4
Not assessed: p.G396D is associated with MUTYH-associated polyposis, but the patient's specific phenotype and family history are not available.
PP5
Not met: ClinVar shows zero expert-panel submissions, and the displayed record maps to c.1103G>A rather than the assessed c.1187G>A.
