ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)

dbSNP: rs1566443170
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706919 SCV000835994 pathogenic Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2018-02-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 14681881, 25439726, 25568292). This variant has not been reported in the literature in individuals with IGHMBP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr439Aspfs*62) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product.
Mendelics RCV000988591 SCV001138368 likely pathogenic Autosomal recessive distal spinal muscular atrophy 1 2019-05-28 criteria provided, single submitter clinical testing
DASA RCV001813800 SCV002061244 pathogenic Neuronopathy, distal hereditary motor, autosomal dominant 1 2022-01-05 criteria provided, single submitter clinical testing The c.1313dup;p.(Thr439Aspfs*62) is a null frameshift variant (NMD) in the IGHMBP2 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevantexon to the transcript -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 582766) - PS4. This variant is not present in population databases (rs1566443170, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic.

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