ClinVar Miner

Submissions for variant NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)

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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 RCV003128370 SCV003804648 likely pathogenic Epicanthus; Inversion of nipple; Cerebellar ataxia; Atypical behavior; Focal-onset seizure; Hypermetropia; Pes planus; Short philtrum; Macrocephaly; Generalized-onset seizure; Moderate global developmental delay 2023-01-31 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_MOD, PM5, PM2_SUP, PP2, PP3 At the affected amino acid position, another amino acid substitution is already described as pathogenic in the databases for disease-causing variants and in the literature (PM5,c.1366G>C; (p.Val456Leu), Salpietro et al., 2022, PMID: 36318112)

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