ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) (rs730880066)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157149 SCV000206872 uncertain significance Thoracic aortic aneurysm and aortic dissection 2014-08-25 no assertion criteria provided clinical testing
Invitae RCV000699962 SCV000828695 uncertain significance Ehlers-Danlos syndrome, classic type 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 565 of the COL5A2 protein (p.Glu565Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. 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. ClinVar contains an entry for this variant (Variation ID: 180302). 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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