Submissions for variant NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)

gnomAD frequency: 0.00097  dbSNP: rs144206959

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242090	SCV000301795	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000323150	SCV000353122	benign	Hypokalemic periodic paralysis, type 1	2018-01-12	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	RCV000543109	SCV000528149	likely benign	not provided	2020-12-24	criteria provided, single submitter	clinical testing
Invitae	RCV001083569	SCV000653638	benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000543109	SCV001143490	benign	not provided	2019-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000543109	SCV001249923	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	CACNA1S: BP4, BP7
Genome-Nilou Lab	RCV003454723	SCV004179109	likely benign	Malignant hyperthermia, susceptibility to, 5	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454724	SCV004179110	likely benign	Thyrotoxic periodic paralysis, susceptibility to, 1	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003458358	SCV004179111	likely benign	Congenital myopathy 18	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000323150	SCV004179112	likely benign	Hypokalemic periodic paralysis, type 1	2023-04-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003454723	SCV004360390	benign	Malignant hyperthermia, susceptibility to, 5	2022-10-11	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV001175249	SCV001338829	likely benign	Hereditary liability to pressure palsies	2019-12-13	no assertion criteria provided	clinical testing