ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)

gnomAD frequency: 0.00004  dbSNP: rs532351874
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518320 SCV000612590 uncertain significance not specified 2017-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001241845 SCV001414894 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2025-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003487271 SCV003828854 uncertain significance not provided 2021-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023496 SCV004915022 uncertain significance Inborn genetic diseases 2023-10-16 criteria provided, single submitter clinical testing The c.1492C>T (p.R498C) alteration is located in exon 11 (coding exon 11) of the CACNA1S gene. This alteration results from a C to T substitution at nucleotide position 1492, causing the arginine (R) at amino acid position 498 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003487271 SCV005326096 uncertain significance not provided 2024-03-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005004207 SCV005630938 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-06-20 criteria provided, single submitter clinical testing

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