ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1347+6T>C

gnomAD frequency: 0.00011  dbSNP: rs373343032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800953 SCV000940699 uncertain significance Ehlers-Danlos syndrome, type 4 2023-11-24 criteria provided, single submitter clinical testing This sequence change falls in intron 19 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs373343032, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 646624). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.
Color Diagnostics, LLC DBA Color Health RCV001191161 SCV001358866 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000800953 SCV004828374 likely benign Ehlers-Danlos syndrome, type 4 2024-01-11 criteria provided, single submitter clinical testing

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