ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter) (rs773242930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578974 SCV000680531 pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing The R790X nonsense variant in the IGHMBP2 gene has been reported previously in association with SMARD1 (Maystadt et al., 2004). R790X is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000795152 SCV000934595 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg790*) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773242930, ExAC 0.01%). This variant has been observed in combination with another IGHMBP2 variant in an individual affected with spinal muscular atrophy with respiratory distress (SMARD) (PMID: 15108294). ClinVar contains an entry for this variant (Variation ID: 488695). 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.

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