ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr)

dbSNP: rs562504992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222445 SCV001394543 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-06-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010745 SCV004831462 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-11-30 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 1042 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 26/251464 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 RCV004601406 SCV005099767 uncertain significance Inborn genetic diseases 2024-04-09 criteria provided, single submitter clinical testing The c.3124G>A (p.A1042T) alteration is located in exon 25 (coding exon 25) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 3124, causing the alanine (A) at amino acid position 1042 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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