ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5083T>C (p.Trp1695Arg)

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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 RCV004608142 SCV005106047 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-03-28 criteria provided, single submitter clinical testing The p.W1695R variant (also known as c.5083T>C), located in coding exon 64 of the COL5A1 gene, results from a T to C substitution at nucleotide position 5083. The tryptophan at codon 1695 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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