ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)

gnomAD frequency: 0.00014  dbSNP: rs142102094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517687 SCV000612601 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV000651222 SCV000773073 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001755763 SCV002007330 uncertain significance not provided 2022-11-10 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

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