Submissions for variant NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)

gnomAD frequency: 0.00004  dbSNP: rs782761074

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV001817169	SCV002064967	uncertain significance	not specified	2017-09-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002489869	SCV002792391	uncertain significance	X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome	2022-01-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002489869	SCV003009571	uncertain significance	X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome	2022-03-09	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 384 of the WAS protein (p.Pro384Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with WAS-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen	RCV003883705	SCV004702881	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	WAS: BS2