ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro)

dbSNP: rs1057519453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719810 SCV005326266 pathogenic not provided 2023-08-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28327206)
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000416456 SCV000494194 pathogenic Spinocerebellar ataxia type 19/22 no assertion criteria provided research This variant was identified in an individual with developmenbtal delay, epilepsy, ataxia, and mitochondrial dysfunction and dual molecular diagnoses involving KCND3 and PMPCA.

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