ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.934C>G (p.Pro312Ala) (rs140105243)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200496 SCV000249778 likely benign not specified 2013-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000617522 SCV000738670 uncertain significance Cardiovascular phenotype 2017-04-28 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001042951 SCV001206660 uncertain significance Ehlers-Danlos syndrome, classic type 2019-11-12 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 312 of the COL5A1 protein (p.Pro312Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs140105243, ExAC 0.02%). This variant has not been reported in the literature in individuals with COL5A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 212923). 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 tolerated, but 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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