ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4713G>C (p.Glu1571Asp)

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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 RCV004520469 SCV005032359 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-15 criteria provided, single submitter clinical testing The p.E1571D variant (also known as c.4713G>C), located in coding exon 62 of the COL5A1 gene, results from a G to C substitution at nucleotide position 4713. The glutamic acid at codon 1571 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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