Submissions for variant NM_000069.3(CACNA1S):c.4113+7T>C

gnomAD frequency: 0.77496  dbSNP: rs6702590

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000181033	SCV000301840	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390372	SCV000352966	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.
Athena Diagnostics Inc	RCV000181033	SCV000612606	benign	not specified	2017-07-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588745	SCV000695298	benign	not provided	2016-02-11	criteria provided, single submitter	clinical testing	Variant summary: This c.4113+7T>C variant affects a non-conserved nucleotide, resulting in intronic change. 5/5 in silico tools via Alamut predict this variant not to affect normal splicing. This variant was found in 93542/121404 control chromosomes from ExAC at a frequency of 0.7705018, which is more than 616400 greater than the maximal expected frequency of a pathogenic allele (0.0000013) in this gene. This suggests that this variant is a very common polymorphism. One lab (via ClinVar) has classified this variant as benign. Taken together, this variant has been classified as Benign.
Invitae	RCV001516746	SCV001725078	benign	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000390372	SCV001775942	benign	Hypokalemic periodic paralysis, type 1	2021-07-14	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000181033	SCV001742200	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000181033	SCV001957084	benign	not specified		no assertion criteria provided	clinical testing