ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile)

gnomAD frequency: 0.00032  dbSNP: rs143202536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233206 SCV001405789 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563794 SCV003679890 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.1382C>T (p.T461I) alteration is located in exon 10 (coding exon 10) of the CACNA1S gene. This alteration results from a C to T substitution at nucleotide position 1382, causing the threonine (T) at amino acid position 461 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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