ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)

gnomAD frequency: 0.00006  dbSNP: rs756066219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651212 SCV000773063 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485470 SCV002785498 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530539 SCV003543649 uncertain significance Inborn genetic diseases 2021-08-06 criteria provided, single submitter clinical testing The c.4861G>A (p.V1621I) alteration is located in exon 40 (coding exon 40) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 4861, causing the valine (V) at amino acid position 1621 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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