ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2041C>T (p.Arg681Cys)

dbSNP: rs1564445192
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002241681 SCV001484307 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2024-12-15 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 681 of the COL5A1 protein (p.Arg681Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 999394). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt COL5A1 protein function with a positive predictive value of 95%. 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.
MGZ Medical Genetics Center RCV002241681 SCV002581908 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-06-30 criteria provided, single submitter clinical testing

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