Submissions for variant NM_000377.3(WAS):c.1339-2A>G

dbSNP: rs2147267240

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002012548	SCV002280887	likely pathogenic	X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome	2021-07-06	criteria provided, single submitter	clinical testing	In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is also known as IVS10-2A>G. Disruption of this splice site has been observed in individual(s) with features of WAS-related conditions (PMID: 15284122). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 10 of the WAS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WAS are known to be pathogenic (PMID: 15284122).
CeGaT Center for Human Genetics Tuebingen	RCV003312034	SCV004010936	pathogenic	not provided	2023-10-01	criteria provided, single submitter	clinical testing	WAS: PVS1, PM2