PS1
Not assessed: insufficient evidence was available to evaluate this missense change against an established pathogenic variant at the same position.
PS3
Not met: a direct functional assay found the variant retains function (Sun et al.
PS4
Not met: no case-control or cohort enrichment study of this variant exists, so the PS4 requirements (p<=0.05 and OR>=2) cannot be met.
PM1
Not assessed: insufficient evidence was available to determine whether this position falls in a mutational hotspot or critical domain.
PM3
Not assessed: no evidence places this variant in an affected A-T proband (all ClinVar submissions are VUS), so no PM3 points could be accrued.
PM5
Not assessed: insufficient evidence was available to determine whether a different pathogenic variant occurs at the same codon.
PP1
Not assessed: no segregation or pedigree evidence was available — zero informative meioses — so no PP1 strength could be assigned.
PP2
Not assessed: insufficient evidence was available to evaluate whether missense variants in ATM are a common disease mechanism.
PP3
Not met: REVEL 0.644 is below the >0.7333 PP3 threshold, and SpliceAI max delta 0.01 is below 0.2.
