ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1310A>C (p.Gln437Pro)

dbSNP: rs2062431125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037997 SCV001201437 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 437 of the WAS protein (p.Gln437Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Wiskott-Aldrich syndrome (Invitae). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 836794).

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