ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4487A>G (p.Glu1496Gly)

dbSNP: rs1588589560
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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 RCV002234831 SCV000952680 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 1496 of the COL5A1 protein (p.Glu1496Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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