ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1537+88G>A (rs1555247438)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Pédiatrie - Neurologie et infectiologie - Toulouse,CHU de Toulouse - Hôpital des Enfants RCV000677249 SCV000692473 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1 2018-01-21 criteria provided, single submitter case-control Never published in databases. It is a deep intronic mutation probably affecting a splice donor site, which dysfunction might generate a premature codon stop. It occurs at the middle in the sequence: in the intron 10, for a total of 15 exons. It is located in the main functional domain of the protein IGHMB2 the "DNA helicase domain", at a specific location where ATP binding sites are concentrated (region 2A).

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