ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.70T>C (p.Ser24Pro)

dbSNP: rs2062410722
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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 RCV001035433 SCV001198760 likely pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2020-10-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Ser24 amino acid residue in WAS. Other variant(s) that disrupt this residue have been observed in individuals with WAS-related conditions (PMID: 15284122), which suggests that this may be a clinically significant amino acid residue. 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"). This variant has been observed in individuals affected with Wiskott–Aldrich syndrome (PMID: 15284122, 21185603, 31354712, Invitae). ClinVar contains an entry for this variant (Variation ID: 834695). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 24 of the WAS protein (p.Ser24Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline.

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