ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.6064G>A (p.Glu2022Lys) (rs202002033)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717518 SCV000848371 likely benign History of neurodevelopmental disorder 2016-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
GeneDx RCV000490139 SCV000577294 uncertain significance not specified 2017-04-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1A gene. The E2022K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E2022K variant is observed in 13/1902 (0.7%) alleles from individuals of East Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E2022K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Glutamic acid are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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