ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.413G>C (p.Arg138Pro)

dbSNP: rs139265251
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588019 SCV000696643 pathogenic Thrombocytopenia 1 2016-12-07 criteria provided, single submitter clinical testing Variant summary: The WAS c.413G>C (p.Arg138Pro) variant located in the WH1/EVH1 domain (via InterPro) causes a missense change involving a non-conserved nucleotide, which 3/5 in silico tools predict a damaging outcome. Multiple functional studies support these predictions. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP) and has been reported in multiple affected indivdiuals (1 classic WAS, 2 brothers X-linked thrombocytopenia, 1 mild WAS (indicated to be de novo) via publications, which support the variability of WAS clinical manifestations. One database cites the variant as pathogenic but has not been reported by clinical diagnostic laboratories. Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as "pathogenic."

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