ClinVar Miner

Submissions for variant NM_000377.2(WAS):c.266G>A (p.Gly89Asp) (rs139857045)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812382 SCV000952693 uncertain significance X-linked severe congenital neutropenia; X-linked thrombocytopenia with normal platelets; Wiskott-Aldrich syndrome 2018-11-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 89 of the WAS protein (p.Gly89Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs139857045, ExAC 0.07%). This variant has been observed in an individual mildly affected with WAS-related disease (PMID: 9683546). This variant has been reported not to substantially affect WAS protein function (PMID: 19817875). 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.

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