ClinVar Miner

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

gnomAD frequency: 0.00005  dbSNP: rs782784813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.

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