ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)

gnomAD frequency: 0.00006  dbSNP: rs145039828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686554 SCV000814077 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477528 SCV002775100 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547103 SCV003741570 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.3406G>A (p.G1136S) alteration is located in exon 26 (coding exon 26) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 3406, causing the glycine (G) at amino acid position 1136 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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