Submissions for variant NM_001378969.1(KCND3):c.1359G>A (p.Ala453=)

gnomAD frequency: 0.00001  dbSNP: rs762936059

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000606138	SCV000721290	likely benign	not specified	2017-07-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001443461	SCV001646432	likely benign	Spinocerebellar ataxia type 19/22	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002384342	SCV002699969	likely benign	Cardiovascular phenotype	2020-07-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004547724	SCV004757037	likely benign	KCND3-related disorder	2021-11-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).