ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2611+1G>T (rs786205090)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528403 SCV000642345 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-08-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the IGHMBP2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in IGHMBP2 are known to be pathogenic. This particular variant has been reported to segregate with spinal muscular atrophy with respiratory distress in a single affected family (PMID: 11528396). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000598811 SCV000709970 likely pathogenic not provided 2021-03-17 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31980526, 30863264, 25525159, 22157136, 11528396, 25280635)
OMIM RCV000009688 SCV000029906 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1 2001-09-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789975 SCV000929364 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only

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