ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)

gnomAD frequency: 0.00008  dbSNP: rs751048080
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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 RCV000807837 SCV000947913 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487735 SCV002794083 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353041 SCV004053724 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.4786G>A (p.G1596R) alteration is located in exon 39 (coding exon 39) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 4786, causing the glycine (G) at amino acid position 1596 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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