ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.852del (p.Glu285fs)

dbSNP: rs1557007035
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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 RCV000586443 SCV000696645 likely pathogenic Wiskott-Aldrich syndrome 2016-07-18 criteria provided, single submitter clinical testing Variant summary: The WAS c.852delC (p.Glu285Argfs) variant results in a premature termination codon, predicted to cause a truncated or absent WAS protein due to nonsense mediated decay (NMD), which are commonly known mechanisms for disease. If the variant escapes NMD, it is expected to truncate GRSGPLPPXP motifs and WH2 domain. Truncations downstream of this position have been classified as pathogenic/likely pathogenic by our laboratory (e.g. c.1271delG, c.1271dupG, c.1456delG, etc.). This variant is absent in approximately 69730 control chromosomes from ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is currently classified as a Probable Disease Variant (or Likely Pathogenic).

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