Submissions for variant NM_000069.3(CACNA1S):c.-4A>G

gnomAD frequency: 0.00050  dbSNP: rs200408018

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000579186	SCV000680858	uncertain significance	not provided	2019-06-25	criteria provided, single submitter	clinical testing	Alters a position that is not conserved in the Kozak sequence, which plays a role in the initiation of protein translation. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown; Has not been previously published as pathogenic or benign to our knowledge
Illumina Laboratory Services, Illumina	RCV001102103	SCV001258751	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000579186	SCV002496977	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	CACNA1S: BP4
Color Diagnostics, LLC DBA Color Health	RCV003517228	SCV004360418	likely benign	Malignant hyperthermia, susceptibility to, 5	2022-10-11	criteria provided, single submitter	clinical testing