ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4608+4T>G

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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 RCV004822581 SCV005564228 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-07-03 criteria provided, single submitter clinical testing The c.4608+4T>G intronic variant results from a T to G substitution 4 nucleotides after coding exon 59 in the COL5A1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.

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