ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln)

gnomAD frequency: 0.00006  dbSNP: rs530655602
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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 RCV001084742 SCV000773104 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000651253 SCV001147597 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601236 SCV005099761 uncertain significance Inborn genetic diseases 2024-05-14 criteria provided, single submitter clinical testing The c.3761G>A (p.R1254Q) alteration is located in exon 30 (coding exon 30) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 3761, causing the arginine (R) at amino acid position 1254 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003953182 SCV004775926 likely benign CACNA1S-related disorder 2020-03-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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