Submissions for variant NM_000377.3(WAS):c.1252G>T (p.Ala418Ser)

gnomAD frequency: 0.00005  dbSNP: rs782784813

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001034405	SCV001197750	benign	X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome	2024-01-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV003151265	SCV003839219	uncertain significance	not specified	2022-09-23	no assertion criteria provided	clinical testing	DNA sequence analysis of the WAS gene demonstrated a sequence change, c.1252G>T, in exon 10 that results in an amino acid change, p.Ala418Ser. This sequence change does not appear to have been previously described in individuals with WAS-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.005% in the overall population (dbSNP rs782784813). The p.Ala418Ser change affects a moderately conserved amino acid residue located in a domain of the WAS protein that is not known to be functional. The p.Ala418Ser substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Ala418Ser change remains unknown at this time.