ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)

gnomAD frequency: 0.00003  dbSNP: rs749856222
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549714 SCV000653704 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476193 SCV002803004 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-07-21 criteria provided, single submitter clinical testing
GeneDx RCV003223654 SCV003919222 uncertain significance not provided 2022-10-21 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
Breakthrough Genomics, Breakthrough Genomics RCV003223654 SCV005261051 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004965570 SCV005546300 uncertain significance Inborn genetic diseases 2024-06-25 criteria provided, single submitter clinical testing The c.3890G>A (p.G1297E) alteration is located in exon 32 (coding exon 32) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 3890, causing the glycine (G) at amino acid position 1297 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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