ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) (rs886037759)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics,Oslo University Hospital RCV000240656 SCV000255975 likely pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1 2015-10-21 criteria provided, single submitter research
Ambry Genetics RCV000624850 SCV000740939 pathogenic Inborn genetic diseases 2015-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000810966 SCV000951208 likely pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-12-04 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the IGHMBP2 mRNA. The next in-frame methionine is located at codon 338. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Charcot-Marie-Tooth disease or spinal muscular atrophy with respiratory distress (PMID: 26392352, 27450922). ClinVar contains an entry for this variant (Variation ID: 217448). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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