ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.142A>C (p.Thr48Pro)

dbSNP: rs2062412197
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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 RCV001204405 SCV001375611 likely pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2023-03-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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.Thr48 amino acid residue in WAS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8528199, 9326235, 15284122, 19817875). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt WAS protein function. ClinVar contains an entry for this variant (Variation ID: 935749). This missense change has been observed in individual(s) with clinical features of Wiskott-Aldrich syndrome/X-linked thrombocytopenia (Invitae). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 48 of the WAS protein (p.Thr48Pro).

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