Submissions for variant NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys)

gnomAD frequency: 0.00143  dbSNP: rs150838215

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213122	SCV000268826	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Arg2166Lys in exon 49 of CACNA1D: This variant is not expected to have clinical significance because it has been identified in 0.5% (22/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs150838215).
Invitae	RCV000901570	SCV001045947	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000901570	SCV001815544	likely benign	not provided	2020-09-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000213122	SCV002064918	likely benign	not specified	2019-07-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003278701	SCV003961921	likely benign	Inborn genetic diseases	2023-03-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV003937800	SCV004756743	likely benign	CACNA1D-related condition	2021-04-08	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).