ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5085G>T (p.Trp1695Cys)

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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 RCV002335908 SCV002642937 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-03-18 criteria provided, single submitter clinical testing The p.W1695C variant (also known as c.5085G>T), located in coding exon 64 of the COL5A1 gene, results from a G to T substitution at nucleotide position 5085. The tryptophan at codon 1695 is replaced by cysteine, an amino acid with highly 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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