ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) (rs201392574)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621118 SCV000737457 uncertain significance Cardiovascular phenotype 2016-01-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
GeneDx RCV000170745 SCV000223298 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1C gene. The V595I variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. This variant was not observed with any significant frequency in the Exome Aggregation Consortium or with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nevertheless, the V595I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.
Invitae RCV000471623 SCV000562867 likely benign Long QT syndrome 2017-06-20 criteria provided, single submitter clinical testing

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