ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.316G>A (p.Gly106Ser) (rs180938313)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621964 SCV000738512 uncertain significance Cardiovascular phenotype 2016-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000460511 SCV000541787 uncertain significance Ehlers-Danlos syndrome, type 4 2016-04-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 106 of the COL3A1 protein (p.Gly106Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs180938313, ExAC 0.02%) but has not been reported in the literature in individuals with a COL3A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in the population, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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