ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.946C>A (p.Pro316Thr)

gnomAD frequency: 0.00001  dbSNP: rs372779500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070578 SCV001235835 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-04-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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. ClinVar contains an entry for this variant (Variation ID: 863583). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 316 of the WAS protein (p.Pro316Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with WAS-related conditions.
Fulgent Genetics, Fulgent Genetics RCV001070578 SCV002788947 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-03-24 criteria provided, single submitter clinical testing

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