ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) (rs61731907)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000330441 SCV000373780 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000479567 SCV000572958 uncertain significance not provided 2018-01-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the IGHMBP2 gene. The D474E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D474E variant is observed in 85/10076 (0.8%) alleles from individuals of Ashkenazi Jewish background (Lek et al., 2016). The D474E 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. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000479567 SCV000642305 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing

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