ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs) (rs1555247732)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542958 SCV000642318 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2017-03-23 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 12 of the IGHMBP2 mRNA (c.1681dupA), causing a frameshift at codon 561. This creates a premature translational stop signal (p.Ile561Asnfs*27) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 15269181). For these reasons, this variant has been classified as Pathogenic.

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