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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.
All of Us Research Program, National Institutes of Health RCV004004250 SCV004815295 uncertain significance Malignant hyperthermia, susceptibility to, 5 2024-01-11 criteria provided, single submitter clinical testing This missense variant replaces glycine with serine at codon 1136 of the CACNA1S protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, 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 32/282872 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.

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