ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4609-3C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003301398 SCV003996337 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-24 criteria provided, single submitter clinical testing The c.4609-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 60 in the COL5A1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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