Submissions for variant NM_001378969.1(KCND3):c.1371G>A (p.Thr457=)

gnomAD frequency: 0.00001  dbSNP: rs773858454

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000620690	SCV000738075	uncertain significance	Cardiovascular phenotype	2017-08-01	criteria provided, single submitter	clinical testing	The c.1371G>A variant (also known as p.T457T), located in coding exon 3 of the KCND3 gene, results from a G to A substitution at nucleotide position 1371. This nucleotide substitution does not change the at codon 457. However, this change occurs in the last base pair of coding exon 3, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV001270075	SCV001448856	uncertain significance	not provided	2019-09-06	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483723	SCV002780223	uncertain significance	Spinocerebellar ataxia type 19/22; Brugada syndrome 9	2021-07-12	criteria provided, single submitter	clinical testing