ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)

dbSNP: rs1332319177
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002536921 SCV003440561 pathogenic Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2022-10-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 637901). This premature translational stop signal has been observed in individual(s) with IGHMBP2-related conditions (PMID: 14681881). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln41Argfs*8) 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).
Inherited Neuropathy Consortium RCV000790273 SCV000929676 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only

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