ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)

gnomAD frequency: 0.00024  dbSNP: rs147392278
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791823 SCV000931087 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2025-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001805856 SCV002050372 uncertain significance not provided 2024-06-12 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
Ambry Genetics RCV002535852 SCV003529219 uncertain significance Inborn genetic diseases 2021-09-30 criteria provided, single submitter clinical testing The c.4972C>T (p.R1658C) alteration is located in exon 40 (coding exon 40) of the CACNA1S gene. This alteration results from a C to T substitution at nucleotide position 4972, causing the arginine (R) at amino acid position 1658 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003975321 SCV004790392 likely benign CACNA1S-related disorder 2022-10-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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