ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn)

gnomAD frequency: 0.00004  dbSNP: rs752513328
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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 RCV001372783 SCV001569468 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169919 SCV003888500 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.2218G>A (p.D740N) alteration is located in exon 16 (coding exon 16) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 2218, causing the aspartic acid (D) at amino acid position 740 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV003517329 SCV004360375 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-05-09 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 740 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 not been identified 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.
All of Us Research Program, National Institutes of Health RCV003517329 SCV004818863 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-12-01 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 740 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 not been identified 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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