Submissions for variant NM_000377.3(WAS):c.37C>T (p.Arg13Ter)

dbSNP: rs193922415

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030595	SCV000053273	pathogenic	Wiskott-Aldrich syndrome	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001230612	SCV001403096	pathogenic	X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome	2024-06-25	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg13*) in the WAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WAS are known to be pathogenic (PMID: 15284122). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Wiskott-Aldrich Syndrome (PMID: 7579347, 15497008, 21185603, 22523910). This variant is also known as 71C>T (Arg13Ter). ClinVar contains an entry for this variant (Variation ID: 36911). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV001311067	SCV001501101	pathogenic	not provided	2024-08-01	criteria provided, single submitter	clinical testing	WAS: PVS1:Strong, PM2, PP4:Moderate, PS4:Moderate
Genomics Facility, Ludwig-Maximilians-Universität München	RCV000030595	SCV002073869	pathogenic	Wiskott-Aldrich syndrome	2021-12-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001230612	SCV005682603	pathogenic	X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome	2024-03-21	criteria provided, single submitter	clinical testing