ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5171G>C (p.Gly1724Ala)

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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 RCV004520470 SCV005032406 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-10-10 criteria provided, single submitter clinical testing The p.G1724A variant (also known as c.5171G>C), located in coding exon 65 of the COL5A1 gene, results from a G to C substitution at nucleotide position 5171. The glycine at codon 1724 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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