ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) (rs746581714)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics,Oslo University Hospital RCV000240663 SCV000255976 likely pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1 2015-10-21 criteria provided, single submitter research
Department of Medical Genetics,Oslo University Hospital RCV000240655 SCV000255978 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2S 2015-10-21 criteria provided, single submitter research
Invitae RCV000793527 SCV000932883 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys328Thrfs*46) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746581714, ExAC 0.001%). This variant has been observed to segregate with Charcot-Marie-Tooth (CMT) disease and spinal muscular atrophy with respiratory distress (SMARD1) in a family and has been observed in several patients with SMARD1. This variant has been observed on the opposite chromosome (in trans) from other pathogenic variants in individuals affected with CMT and SMARD (PMID: 14681881, 27450922). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 217449). Loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 14681881, 25439726, 25568292). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789980 SCV000929369 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only
Genesis Genome Database RCV000856966 SCV000999531 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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