ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1720G>A (p.Ala574Thr) (rs1378524388)

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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 RCV000677250 SCV000692471 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1 2018-01-21 criteria provided, single submitter case-control Well conserved across species. Never published yet. Missense mutation in the end of the main functional domain of IGHMBP2 "DNA helicase" in the region 2A where ATP binding sites seem to be concentrated.

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