ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.2870G>T (p.Arg957Leu) (rs551380805)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710087 SCV000612521 benign not provided 2018-03-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710087 SCV000860310 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000478512 SCV000572076 uncertain significance not specified 2016-11-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1A gene. The R957L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R957L variant was not observed with any significant frequency in the Exome Aggregation Consortium (ExAC) data set. The R957L 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 that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with CACNA1A-related disorders (Stenson et al., 2014). Therefore, 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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