ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)

gnomAD frequency: 0.00012  dbSNP: rs146885451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489613 SCV000576882 uncertain significance not provided 2022-03-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000703733 SCV000832647 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-09-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506187 SCV002812051 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527025 SCV003728625 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.4916A>T (p.E1639V) alteration is located in exon 40 (coding exon 40) of the CACNA1S gene. This alteration results from a A to T substitution at nucleotide position 4916, causing the glutamic acid (E) at amino acid position 1639 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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