ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.745-7T>C (rs776306752)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607135 SCV000716370 likely benign not specified 2017-03-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000607135 SCV001442576 uncertain significance not specified 2020-10-26 criteria provided, single submitter clinical testing Variant summary: COL3A1 c.745-7T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 249690 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.745-7T>C has been reported in the literature in an individual with a clinical diagnosis of aortopathy (Wooderchak-Donahue_2012). This report however, does not provide unequivocal conclusions about association of the variant with Ehlers-Danlos Syndrome, Vascular Type. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Color Health, Inc RCV001525235 SCV001735284 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-09-04 criteria provided, single submitter clinical testing

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