ClinVar Miner

Submissions for variant NM_001734.5(C1S):c.991C>T (p.Arg331Cys)

gnomAD frequency: 0.00004  dbSNP: rs140488585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV002262169 SCV002543771 uncertain significance Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type 2 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003095953 SCV003029845 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 331 of the C1S protein (p.Arg331Cys). This variant is present in population databases (rs140488585, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with C1S-related conditions. ClinVar contains an entry for this variant (Variation ID: 1694448). 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 not expected to disrupt C1S protein function with a negative predictive value of 80%. 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.

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