Submissions for variant NM_018896.5(CACNA1G):c.1646G>C (p.Gly549Ala)

gnomAD frequency: 0.00073  dbSNP: rs527691624

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000908809	SCV001053589	likely benign	not provided	2024-09-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000908809	SCV001844152	benign	not provided	2021-05-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002540782	SCV003582142	likely benign	Inborn genetic diseases	2021-05-24	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.
CeGaT Center for Human Genetics Tuebingen	RCV000908809	SCV004140839	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	CACNA1G: BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000908809	SCV005218151	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000908809	SCV001798873	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000908809	SCV001929897	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000908809	SCV001970421	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541930	SCV004775972	likely benign	CACNA1G-related disorder	2023-02-13	no assertion criteria provided	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).