ClinVar Miner

Submissions for variant NM_001734.5(C1S):c.1600C>T (p.Arg534Trp)

gnomAD frequency: 0.00020  dbSNP: rs121909582
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994838 SCV001148627 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Invitae RCV000994838 SCV002181956 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 534 of the C1S protein (p.Arg534Trp). This variant is present in population databases (rs121909582, gnomAD 0.03%). 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: 17068). 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 C1S protein function with a positive 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.
Fulgent Genetics, Fulgent Genetics RCV002490386 SCV002789905 uncertain significance Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type 2 2022-05-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000994838 SCV003830247 uncertain significance not provided 2020-10-20 criteria provided, single submitter clinical testing

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