ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1730T>C (p.Leu577Pro) (rs1483165002)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000626051 SCV000746671 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2S 2017-02-07 criteria provided, single submitter clinical testing The c.1730T>C variant has been observed in multiple, unrelated, affected individuals with Charcot Marie-Tooth disease 2 (Grohmann K, Varon R, Stolz P, et al. 2003). In addition, multiple lines of computational evidence support a deleterious effect of the p.Leu577Pro variant on the gene or gene product. This individual has been reported in PMID: 31020813.
Inherited Neuropathy Consortium RCV000789978 SCV000929367 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only

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