Submissions for variant NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys)

dbSNP: rs777183510

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002386506	SCV002695446	uncertain significance	Cardiovascular phenotype	2022-01-07	criteria provided, single submitter	clinical testing	The p.R431C variant (also known as c.1291C>T), located in coding exon 3 of the KCND3 gene, results from a C to T substitution at nucleotide position 1291. The arginine at codon 431 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant has been detected in an individual from an episodic ataxia cohort (Choi KD et al. Sci Rep, 2017 10;7:13855). 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.
Athena Diagnostics	RCV004998955	SCV005621406	uncertain significance	not provided	2023-10-18	criteria provided, single submitter	clinical testing	Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) This variant has been identified in at least one individual with clinical features associated with this gene. Computational tools predict that this variant is damaging.
O&I group, Department of Genetics, University Medical Center of Groningen	RCV001849200	SCV001960834	likely pathogenic	Spinocerebellar ataxia type 19/22	2021-07-22	no assertion criteria provided	research