ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.167G>A (p.Arg56His) (rs571887680)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658282 SCV000780053 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing The R56H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R56H variant is observed in 5/30,782 (0.02%) alleles from individuals of South Asian background (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.

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