ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)

dbSNP: rs867628133
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027678 SCV001190241 likely pathogenic Spinocerebellar ataxia type 19/22 2019-05-15 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001027678 SCV002604963 likely pathogenic Spinocerebellar ataxia type 19/22 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307800 SCV004000976 uncertain significance Cardiovascular phenotype 2023-03-24 criteria provided, single submitter clinical testing The p.S357L variant (also known as c.1070C>T), located in coding exon 1 of the KCND3 gene, results from a C to T substitution at nucleotide position 1070. The serine at codon 357 is replaced by leucine, an amino acid with dissimilar properties. This variant has been detected in an individual reported to have cerebellar ataxia (Thomas Q et al. J Med Genet, 2022 May;59:445-452). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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