ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3428C>T (p.Ser1143Leu)

gnomAD frequency: 0.00001  dbSNP: rs756712640
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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 RCV002025894 SCV002292149 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170560 SCV003862269 uncertain significance Inborn genetic diseases 2023-02-02 criteria provided, single submitter clinical testing The c.3428C>T (p.S1143L) alteration is located in exon 27 (coding exon 27) of the CACNA1S gene. This alteration results from a C to T substitution at nucleotide position 3428, causing the serine (S) at amino acid position 1143 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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