ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.200T>C (p.Phe67Ser)

dbSNP: rs1555242247
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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 RCV000677257 SCV000680467 uncertain significance Autosomal recessive distal spinal muscular atrophy 1 2018-01-21 criteria provided, single submitter case-control Missense mutation in the DNA helicase domain (region 1B). Poorly conserved across species. Never published yet. Presented a sudden respiratory distress at 6 months old requiring mechanical ventilation, 2 months after discovering a right phrenic palsy, tracheostomized at 18 months old.

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