ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)

gnomAD frequency: 0.00004  dbSNP: rs745775887
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413632 SCV000492105 uncertain significance not specified 2016-11-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1A gene. The R1983Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1983Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1983Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Eurofins Ntd Llc (ga) RCV000727526 SCV000709483 uncertain significance not provided 2017-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000791501 SCV000930753 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-23 criteria provided, single submitter clinical testing
New York Genome Center RCV002275037 SCV002564183 uncertain significance Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524653 SCV003725963 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.5948G>A (p.R1983Q) alteration is located in exon 41 (coding exon 41) of the CACNA1A gene. This alteration results from a G to A substitution at nucleotide position 5948, causing the arginine (R) at amino acid position 1983 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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