ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter) (rs112371422)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000087665 SCV000631659 pathogenic Ehlers-Danlos syndrome, type 4 2017-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1109 (p.Arg1109*) of the COL3A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL3A1 are known to be pathogenic. This particular variant has been reported in the literature in an individual with Ehlers-Danlos syndrome IV (PMID: 24922459). ClinVar contains an entry for this variant (Variation ID: 101427). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000618906 SCV000738519 pathogenic Cardiovascular phenotype 2017-04-17 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV001189408 SCV001356694 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2018-10-24 criteria provided, single submitter clinical testing
Collagen Diagnostic Laboratory,University of Washington RCV000087665 SCV000120557 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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