ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2704T>C (p.Cys902Arg) (rs1064796817)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479912 SCV000573917 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing The C902R variant in the IGHMBP2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C902R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The C902R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C902R as a variant of uncertain significance.

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