ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1585G>A (p.Val529Ile) (rs140257722)

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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 RCV000620734 SCV000738520 uncertain significance Cardiovascular phenotype 2016-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000690897 SCV000818628 uncertain significance Ehlers-Danlos syndrome, type 4 2018-03-19 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 529 of the COL3A1 protein (p.Val529Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs140257722, ExAC 0.2%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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