ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) (rs587779723)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Collagen Diagnostic Laboratory,University of Washington RCV000087735 SCV000120628 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000087735 SCV000695366 likely pathogenic Ehlers-Danlos syndrome, type 4 2016-10-24 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.2914G>A (p.Gly972Ser) variant located in the collagen triple helix repeat domain, which alters a Glycine, which is critical for protein function with 5/5 in silico tools predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest has not been observed in controls (ExAC, 1000 Gs, or ESP) and has been reported in one affected individual. In addition, a clinical diagnostic laboratory cites the variant as "pathogenic." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as Likely Pathogenic.

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