ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)

dbSNP: rs1225532037
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204582 SCV001375795 pathogenic Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2023-07-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the IGHMBP2 protein in which other variant(s) (p.Arg971Glufs*4, p.Lys868Profs*109) have been determined to be pathogenic (PMID: 23566544, 26298607). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 935895). This variant has not been reported in the literature in individuals affected with IGHMBP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Gln847Argfs*131) in the IGHMBP2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 147 amino acid(s) of the IGHMBP2 protein.
Genetics Laboratory, Department of Biology, Semnan University RCV002271630 SCV002555592 pathogenic Charcot-Marie-Tooth disease axonal type 2S 2019-04-22 criteria provided, single submitter case-control The WES analysis identified a frameshift mutation in the IGHMBP2 gene on chromosome11 (NM_002180.3); chr11:68937020delA c.2540delA: p.Q847fs. The mutation was predicted to be pathogenic based on ACMG guidelines. Our review of the public resources, local population database, and the literature revealed that there is no previous publication describing this mutation.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285021 SCV002574838 likely pathogenic Autosomal recessive distal spinal muscular atrophy 1 2022-09-22 criteria provided, single submitter clinical testing
GeneDx RCV002285454 SCV002575361 likely pathogenic not provided 2022-09-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 147 amino acids are replaced with 130 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV002285454 SCV002818220 pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing

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