ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5399T>C (p.Leu1800Pro)

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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 RCV004822596 SCV005564265 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-10-31 criteria provided, single submitter clinical testing The c.5399T>C (p.L1800P) alteration is located in exon 66 (coding exon 66) of the COL5A1 gene. This alteration results from a T to C substitution at nucleotide position 5399, causing the leucine (L) at amino acid position 1800 to be replaced by a proline (P). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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