ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1799G>T (p.Gly600Val)

dbSNP: rs2105590990
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001973593 SCV002259320 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-09-13 criteria provided, single submitter clinical testing 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 COL5A2 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. This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. This sequence change replaces glycine with valine at codon 600 of the COL5A2 protein (p.Gly600Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency).

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