ClinVar Miner

Submissions for variant NM_000062.3(SERPING1):c.615T>G (p.Cys205Trp)

dbSNP: rs1274312627
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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 RCV002006113 SCV002277223 likely pathogenic not provided 2021-11-29 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 205 of the SERPING1 protein (p.Cys205Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hereditary angioedema type 1 (Invitae). 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 SERPING1 protein function. This variant disrupts the p.Cys205 (also known as p.Cys183) amino acid residue in SERPING1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10719305; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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