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 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 681 of the COL5A1 protein (p.Arg681Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. 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 COL5A1 protein function. 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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