ClinVar Miner

Submissions for variant NM_000217.3(KCNA1):c.677C>T (p.Thr226Met)

dbSNP: rs28933383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004786276 SCV005401391 pathogenic not provided 2024-05-15 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect with reduced channel current as well as slowed activation and deactivation kinetics (PMID: 9714564); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11679591, 8871592, 9714564)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000020219 SCV005420273 pathogenic Episodic ataxia type 1 2024-12-05 criteria provided, single submitter clinical testing
GeneReviews RCV000020219 SCV000040560 not provided Episodic ataxia type 1 no assertion provided literature only

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