Submissions for variant NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu)

dbSNP: rs140662085

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CSER _CC_NCGL, University of Washington	RCV000210890	SCV000264595	likely benign	Malignant hyperthermia of anesthesia	2015-12-01	criteria provided, single submitter	research
Illumina Laboratory Services, Illumina	RCV000366145	SCV000353111	benign	Hypokalemic periodic paralysis, type 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000548603	SCV000523542	likely benign	not provided	2020-10-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26994242, 28326467, 28259615)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086299	SCV000653641	benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5	2024-01-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454557	SCV004179083	likely benign	Malignant hyperthermia, susceptibility to, 5	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454558	SCV004179084	likely benign	Thyrotoxic periodic paralysis, susceptibility to, 1	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003458355	SCV004179085	likely benign	Congenital myopathy 18	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000366145	SCV004179086	likely benign	Hypokalemic periodic paralysis, type 1	2023-04-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003454557	SCV004360387	likely benign	Malignant hyperthermia, susceptibility to, 5	2022-09-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907784	SCV004718241	benign	CACNA1S-related disorder	2023-06-14	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).