ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val) (rs1251846979)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552887 SCV000631603 uncertain significance Ehlers-Danlos syndrome, classic type 2017-07-10 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1293 of the COL5A2 protein (p.Ala1293Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine 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 COL5A2-related disease. 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, 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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