ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr)

gnomAD frequency: 0.00006  dbSNP: rs753901380
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056131 SCV001220552 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-09-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505610 SCV002815880 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554394 SCV003699083 uncertain significance Inborn genetic diseases 2021-07-16 criteria provided, single submitter clinical testing The c.304G>A (p.A102T) alteration is located in exon 3 (coding exon 3) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 304, causing the alanine (A) at amino acid position 102 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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