ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.6467G>A (p.Arg2156His) (rs572722130)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000761991 SCV000571570 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing The R2156H variant in the CACNA1A gene has not been reported previously as a pathogenic variant, nor as a benignvariant, to our knowledge. The R2156H variant was not observed the Exome Aggregation Consortium (ExAC) data set,indicating it is not a common benign variant in these populations. The R2156H is a conservative amino acid substitution,which is not likely to impact secondary protein structure as these residues share similar properties and occurs at a positionwhere amino acids with similar properties to Arginine are tolerated across species. In silico analysis is inconsistent in itspredictions as to whether or not the variant is damaging to the protein structure/function. We interpret R2156H as a variantof uncertain significance.
Ambry Genetics RCV000720411 SCV000851288 likely benign History of neurodevelopmental disorder 2017-05-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);Structural Evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761991 SCV000892221 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing

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