ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) (rs773734224)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000171414 SCV000575558 likely pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778863 SCV000915259 uncertain significance Epilepsy, familial temporal lobe, 5 2018-11-02 criteria provided, single submitter clinical testing The CPA6 c.544C>T (p.Arg182Ter) variant is a stop-gained variant that is predicted to result in an absent or truncated protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000024 in the Total population of the Genome Aggregation Database. Based on the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Arg182Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for familial temporal lobe epilepsy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171414 SCV000221611 likely pathogenic not provided no assertion criteria provided research

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