ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.107G>A (p.Arg36His)

dbSNP: rs183899632
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785358 SCV002026371 likely pathogenic Febrile seizures, familial, 11 2024-07-24 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_020361.5:c.127A>G (ClinVar ID: 577800). Functional studies show a significant reduction of CPA6 levels (PMID: 25875328). Criteria applied: PS3, PS4_SUP, PM2_SUP

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