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

dbSNP: rs867628133

Total submissions: 3

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.