ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.711+1G>C (rs774079947)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390623 SCV001592414 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-03-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the IGHMBP2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs774079947, ExAC 0.02%). This variant has been observed in individual(s) with IGHMBP2-related conditions (PMID: 24022109, 31211173). ClinVar contains an entry for this variant (Variation ID: 637269). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 14681881). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789346 SCV000928699 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only

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