ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)

dbSNP: rs780692442
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209897 SCV001381353 pathogenic Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2019-06-17 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Val409Glnfs*17) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with IGHMBP2-related conditions. 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).

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