ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.141G>A (p.Met47Ile)

dbSNP: rs1553519048
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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 RCV002314275 SCV000738713 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-20 criteria provided, single submitter clinical testing The p.M47I variant (also known as c.141G>A), located in coding exon 2 of the COL5A2 gene, results from a G to A substitution at nucleotide position 141. The methionine at codon 47 is replaced by isoleucine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), Exome Aggregation Consortium (ExAC), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other 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 variant remains unclear.

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