ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.898-14A>G

gnomAD frequency: 0.00001  dbSNP: rs763316592
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634723 SCV000756061 uncertain significance Ehlers-Danlos syndrome, type 4 2023-12-19 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein. This variant is present in population databases (rs763316592, gnomAD 0.006%). This variant has been observed in individuals with an abdominal aortic aneurysm (PMID: 26017485). ClinVar contains an entry for this variant (Variation ID: 529326). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
GeneDx RCV000837955 SCV000979818 likely benign not provided 2018-04-06 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.
Color Diagnostics, LLC DBA Color Health RCV001179805 SCV001344587 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000837955 SCV001714067 uncertain significance not provided 2021-03-09 criteria provided, single submitter clinical testing

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