ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser)

gnomAD frequency: 0.00002  dbSNP: rs369931782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687088 SCV000814639 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-07-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765033 SCV000896222 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026255 SCV004915028 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.253G>A (p.G85S) alteration is located in exon 2 (coding exon 2) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 253, causing the glycine (G) at amino acid position 85 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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