ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) (rs375124784)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195720 SCV000249970 uncertain significance not provided 2017-03-22 criteria provided, single submitter clinical testing The V845I variant has not been publishedas pathogenic or been reported as benign to our knowledge. The V845I substitutionoccurs at a position that is conserved through mammals, however, V845I is conservative amino acid substitution,which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysisis inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Inaddition, this variant is observed at a low frequency in large population cohorts, specifically, 5/10302 alleles(0.049%) in African individuals in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015;Exome Variant Server). Finally, in contrast to several other collagen genes, most pathogenic variants in COL5A2 arein-frame splice site changes that cause exon skipping (Symoens et al., 2012).
Ambry Genetics RCV000247311 SCV000319783 uncertain significance Cardiovascular phenotype 2016-04-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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