ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)

gnomAD frequency: 0.00001  dbSNP: rs750077868
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517121 SCV000612566 uncertain significance not specified 2017-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316467 SCV000849679 uncertain significance Inborn genetic diseases 2017-05-30 criteria provided, single submitter clinical testing The p.P2145L variant (also known as c.6434C>T), located in coding exon 45 of the CACNA1A gene, results from a C to T substitution at nucleotide position 6434. The proline at codon 2145 is replaced by leucine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000764177 SCV000895179 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001302457 SCV001491667 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-02 criteria provided, single submitter clinical testing
GeneDx RCV004591458 SCV005080274 uncertain significance not provided 2023-11-01 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

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