ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.373G>C (p.Gly125Arg)

dbSNP: rs2147263882
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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 RCV002004114 SCV002291001 likely pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-09-01 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.Gly125 amino acid residue in WAS. Other variant(s) that disrupt this residue have been observed in individuals with WAS-related conditions (PMID: 25091438), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects WAS function (PMID: 19817875). 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"). ClinVar contains an entry for this variant (Variation ID: 1505547). This missense change has been observed in individual(s) with Wiskott-Aldrich syndrome (PMID: 8931701, 9326235; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine with arginine at codon 125 of the WAS protein (p.Gly125Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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