ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys)

gnomAD frequency: 0.00007  dbSNP: rs745571736
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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 RCV001205347 SCV001376598 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561181 SCV003754764 uncertain significance Inborn genetic diseases 2022-07-21 criteria provided, single submitter clinical testing The c.3143A>G (p.Y1048C) alteration is located in exon 25 (coding exon 25) of the CACNA1S gene. This alteration results from a A to G substitution at nucleotide position 3143, causing the tyrosine (Y) at amino acid position 1048 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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