ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.680A>G (p.Gln227Arg)

dbSNP: rs1553517410
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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 RCV002314286 SCV000738729 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-01-25 criteria provided, single submitter clinical testing The p.Q227R variant (also known as c.680A>G), located in coding exon 9 of the COL5A2 gene, results from an A to G substitution at nucleotide position 680. The glutamine at codon 227 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly 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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