ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)

gnomAD frequency: 0.00010  dbSNP: rs747618077
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796459 SCV000935973 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-11-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336099 SCV001529396 uncertain significance Hypokalemic periodic paralysis, type 1 2018-10-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV005004429 SCV002814078 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166141 SCV003865512 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.2963G>A (p.R988H) alteration is located in exon 24 (coding exon 24) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 2963, causing the arginine (R) at amino acid position 988 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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