ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)

dbSNP: rs201310235
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801799 SCV000941595 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV002282371 SCV002571623 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005004433 SCV002781824 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2023-12-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001641 SCV004827040 uncertain significance Malignant hyperthermia, susceptibility to, 5 2024-09-23 criteria provided, single submitter clinical testing This missense variant replaces arginine with proline at codon 1702 of the CACNA1S protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with CACNA1S-related disorders in the literature. This variant has been identified in 18/282602 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004028075 SCV004917370 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.5105G>C (p.R1702P) alteration is located in exon 41 (coding exon 41) of the CACNA1S gene. This alteration results from a G to C substitution at nucleotide position 5105, causing the arginine (R) at amino acid position 1702 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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