ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)

dbSNP: rs863224880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000584806 SCV000692558 pathogenic Hyperreflexia; Failure to thrive; Respiratory distress; Ptosis; Clonus; Tachypnea; Severe muscular hypotonia 2016-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765465 SCV004574458 pathogenic Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2023-04-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 242499). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with distal spinomuscular atrophy (PMID: 25326637). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp31*) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 14681881, 25439726, 25568292).

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