ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+) (rs587779687)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181075 SCV000233351 pathogenic not provided 2018-06-04 criteria provided, single submitter clinical testing c.997-1 G>C: IVS14-1 G>C in intron 14 of the COL3A1 gene (NM_000090.3) Although the c.997-1 G>C mutation has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this mutation destroys the canonical splice acceptor site in intron 14 and is predicted to cause abnormal gene splicing. Other splice site mutations in the COL3A1 gene have been reported in association with EDS type IV. Furthermore, the c.997-1 G>C mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations In summary, c.997-1 G>C in the COL3A1 gene is interpreted as a disease-causing mutation. The variant is found in TAAD panel(s).
Ambry Genetics RCV000617365 SCV000738544 pathogenic Cardiovascular phenotype 2017-02-18 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Color RCV001190410 SCV001357890 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection 2019-01-14 criteria provided, single submitter clinical testing
Collagen Diagnostic Laboratory,University of Washington RCV000087685 SCV000120577 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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