ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4382G>T (p.Gly1461Val)

dbSNP: rs1576474944
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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 RCV000792537 SCV000931841 uncertain significance Ehlers-Danlos syndrome, type 4 2018-07-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 1461 of the COL3A1 protein (p.Gly1461Val). 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). This variant has not been reported in the literature in individuals with COL3A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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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