ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.755G>A (p.Arg252His)

gnomAD frequency: 0.00006  dbSNP: rs766838790
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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 RCV000803971 SCV000943859 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004962817 SCV005546302 uncertain significance Inborn genetic diseases 2024-10-07 criteria provided, single submitter clinical testing The c.755G>A (p.R252H) alteration is located in exon 6 (coding exon 6) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 755, causing the arginine (R) at amino acid position 252 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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