ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met)

dbSNP: rs549107212
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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 RCV001351212 SCV001545659 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493807 SCV002782083 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547521 SCV003701908 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.164C>T (p.T55M) alteration is located in exon 2 (coding exon 2) of the CACNA1S gene. This alteration results from a C to T substitution at nucleotide position 164, causing the threonine (T) at amino acid position 55 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004005239 SCV004830700 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-08-15 criteria provided, single submitter clinical testing This missense variant replaces threonine with methionine at codon 55 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 3/251454 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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