ClinVar Miner

Submissions for variant NM_021614.4(KCNN2):c.2344A>G (p.Thr782Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003404686 SCV004104993 uncertain significance KCNN2-related disorder 2023-08-10 criteria provided, single submitter clinical testing The KCNN2 c.1708A>G variant is predicted to result in the amino acid substitution p.Thr570Ala. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
3billion, Medical Genetics RCV004731529 SCV005328549 likely benign Neurodevelopmental disorder with or without variable movement or behavioral abnormalities; Dystonia 34, myoclonic 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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