Submissions for variant NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=)

gnomAD frequency: 0.00038  dbSNP: rs144351014

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000313389	SCV000379413	likely benign	Hereditary episodic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000532447	SCV000379414	benign	Episodic ataxia type 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000517839	SCV000613826	likely benign	not specified	2017-06-09	criteria provided, single submitter	clinical testing
Invitae	RCV000532447	SCV000637936	likely benign	Episodic ataxia type 1	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532205	SCV001747649	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	KCNA1: BP4, BP7
Fulgent Genetics, Fulgent Genetics	RCV000532447	SCV002812515	likely benign	Episodic ataxia type 1	2021-11-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940179	SCV004756238	likely benign	KCNA1-related condition	2019-06-07	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001532205	SCV001978133	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001532205	SCV001980063	likely benign	not provided		no assertion criteria provided	clinical testing