ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2344G>A (p.Val782Met) (rs1057523857)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435464 SCV000533568 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing The V782M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V782M variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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