ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)

gnomAD frequency: 0.00010  dbSNP: rs200434921
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001257060 SCV000653722 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000544824 SCV001147589 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001096065 SCV001252253 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 RCV000544824 SCV004021575 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported as pathogenic or benign in association with neurodevelopmental disorders to our knowledge; This variant is associated with the following publications: (PMID: 32859249)
Color Diagnostics, LLC DBA Color Health RCV003517223 SCV004360322 likely benign Malignant hyperthermia, susceptibility to, 5 2022-11-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010523 SCV005629322 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-03-07 criteria provided, single submitter clinical testing

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