Submissions for variant NM_000069.3(CACNA1S):c.2748C>T (p.His916=)

gnomAD frequency: 0.02034  dbSNP: rs2297902

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248838	SCV000301825	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298607	SCV000353027	benign	Hypokalemic periodic paralysis, type 1	2018-03-06	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	RCV000248838	SCV000519966	benign	not specified	2016-03-18	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.
Invitae	RCV000557416	SCV000653679	benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711141	SCV000841469	benign	not provided	2018-04-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454739	SCV004177824	benign	Malignant hyperthermia, susceptibility to, 5	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454740	SCV004177826	benign	Thyrotoxic periodic paralysis, susceptibility to, 1	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003458372	SCV004177827	benign	Congenital myopathy 18	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000298607	SCV004177828	benign	Hypokalemic periodic paralysis, type 1	2023-04-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003454739	SCV004360361	benign	Malignant hyperthermia, susceptibility to, 5	2018-03-05	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003454739	SCV004821878	benign	Malignant hyperthermia, susceptibility to, 5	2024-02-05	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000711141	SCV002036754	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000248838	SCV002037242	benign	not specified		no assertion criteria provided	clinical testing