ClinVar Miner

Submissions for variant NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe)

dbSNP: rs1555085761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517456 SCV000613834 likely pathogenic not provided 2016-11-16 criteria provided, single submitter clinical testing
3billion RCV001775128 SCV002011987 likely pathogenic Episodic ataxia type 1 2021-10-02 criteria provided, single submitter clinical testing The variant has been reported to co-segregate with the disease in at least 3 similarly affected relatives/individuals in the same family or similarly affected unrelated families (PMID: 16511644, PP1). It is not observed in the gnomAD v2.1.1 dataset (PM2). Missense changes are a common disease-causing mechanism (PP2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.928, 3Cnet: 0.987, PP3). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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