ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser)

gnomAD frequency: 0.00246  dbSNP: rs139491817
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242506 SCV000301835 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367694 SCV000353177 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.
GeneDx RCV000711144 SCV000714976 likely benign not provided 2020-04-17 criteria provided, single submitter clinical testing
Invitae RCV001082151 SCV000773110 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711144 SCV000841472 benign not provided 2018-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165683 SCV003865915 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.383C>G (p.T128S) alteration is located in exon 3 (coding exon 3) of the CACNA1S gene. This alteration results from a C to G substitution at nucleotide position 383, causing the threonine (T) at amino acid position 128 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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