ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)

gnomAD frequency: 0.00003  dbSNP: rs149658326
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693824 SCV000822243 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004372 SCV002791317 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-03-28 criteria provided, single submitter clinical testing
GeneDx RCV004783841 SCV005396560 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004965679 SCV005546306 uncertain significance Inborn genetic diseases 2024-10-28 criteria provided, single submitter clinical testing The c.3013A>T (p.M1005L) alteration is located in exon 24 (coding exon 24) of the CACNA1S gene. This alteration results from a A to T substitution at nucleotide position 3013, causing the methionine (M) at amino acid position 1005 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003892548 SCV004717719 uncertain significance CACNA1S-related disorder 2024-02-12 no assertion criteria provided clinical testing The CACNA1S c.3013A>T variant is predicted to result in the amino acid substitution p.Met1005Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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