ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys)

gnomAD frequency: 0.00001  dbSNP: rs781738239
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342238 SCV001536157 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546954 SCV003581732 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.3703C>T (p.R1235C) alteration is located in exon 22 (coding exon 22) of the CACNA1A gene. This alteration results from a C to T substitution at nucleotide position 3703, causing the arginine (R) at amino acid position 1235 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004727168 SCV005335073 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29991641)
CeGaT Center for Human Genetics Tuebingen RCV004727168 SCV005433886 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing CACNA1A: PM2, PP2

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