ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly)

dbSNP: rs1465803265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173337 SCV001336425 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV003227920 SCV003924815 likely pathogenic not provided 2022-11-10 criteria provided, single submitter clinical testing Observed in an individual with suspected Charcot Marie Tooth disease in published literature; however, no further clinical or segregation information was provided (Volodarsky et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24388491, 25439726, 22965130, 32376792, 15108294)

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