ClinVar Miner

Submissions for variant NM_001734.5(C1S):c.100A>G (p.Ser34Gly)

gnomAD frequency: 0.00043  dbSNP: rs148105120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994836 SCV001148623 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000994836 SCV002182902 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 34 of the C1S protein (p.Ser34Gly). This variant is present in population databases (rs148105120, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. 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: 806820). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002489489 SCV002783717 uncertain significance Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type 2 2022-01-08 criteria provided, single submitter clinical testing

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