ClinVar Miner

Submissions for variant NM_000377.2(WAS):c.734+2T>A (rs1569493877)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700442 SCV000829197 pathogenic Severe congenital neutropenia X-linked; Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome 2018-03-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the WAS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WAS-related disease. A different variant affecting this nucleotide (c.734+2T>C), also known as IVS7+2T>C in the literature, has been determined to be pathogenic (PMID: 25931402). This suggests that this nucleotide is important for normal RNA splicing, and that other variants at this position may also be pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WAS are known to be pathogenic (PMID: 15284122). For these reasons, this variant has been classified as Pathogenic.

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