ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)

gnomAD frequency: 0.00002  dbSNP: rs1220294928
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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 RCV001371088 SCV001567642 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-17 criteria provided, single submitter clinical testing
GeneDx RCV003322889 SCV004028074 uncertain significance not provided 2023-08-16 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
Neuberg Centre For Genomic Medicine, NCGM RCV003444848 SCV004171357 uncertain significance Migraine, familial hemiplegic, 1 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004546643 SCV005042884 uncertain significance Spinocerebellar ataxia type 6 criteria provided, single submitter clinical testing The missense c.6368G>Cp.Arg2123Pro variant in CACNA1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.002% in the gnomAD Exomes and novel in 1000 Genomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. The amino acid Arg at position 2123 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg2123Pro in CACNA1A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is predicted as damaging by SIFT. For these reasons, this variant has been classified as Uncertain Significance.

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