ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004765816 SCV005377443 likely pathogenic not provided 2024-04-21 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect by decreased protein stability and reduced channel activity (PMID: 26189493); In-frame insertion of 3 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30776697, 28895081, 26189493)
OMIM RCV003389358 SCV004101402 pathogenic Spinocerebellar ataxia type 19/22 2023-11-07 no assertion criteria provided literature only

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