ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp)

gnomAD frequency: 0.00004  dbSNP: rs759576380
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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 RCV000687354 SCV000814917 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-05-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000996772 SCV001151687 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000996772 SCV001802155 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31719132, 28492532)
Ambry Genetics RCV002360723 SCV002665032 uncertain significance Inborn genetic diseases 2019-06-14 criteria provided, single submitter clinical testing The p.R2240W variant (also known as c.6718C>T), located in coding exon 46 of the CACNA1A gene, results from a C to T substitution at nucleotide position 6718. The arginine at codon 2240 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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