ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)

dbSNP: rs201310235
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440915 SCV000531207 uncertain significance not provided 2024-09-07 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001230161 SCV001402633 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002522473 SCV003723320 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.5105G>A (p.R1702Q) alteration is located in exon 41 (coding exon 41) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 5105, causing the arginine (R) at amino acid position 1702 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005004157 SCV005629398 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-03-21 criteria provided, single submitter clinical testing

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