ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val) (rs750998195)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484291 SCV000571179 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1C gene. The A1067V varianthas not been published as a pathogenic or benign variant to our knowledge. While the A1067V variantwas not observed in approximately 6,200 individuals of European and African American ancestry inthe NHLBI Exome Sequencing Project, the Exome Aggregation Consortium reports A1067Vwasobserved in 0.14% of alleles from individuals of East Asian background, indicating it may be a rarevariant in this population. Although this substitution occurs at a position that is conserved inmammals, the A1067 variant is a conservative amino acid substitution, which is not likely to impactsecondary protein structure as these residues share similar properties. Consequently, in silico analysis isinconsistent in its predictions as to whether or not the variant is damaging to the proteinstructure/function. Lastly, no missense variants in nearby residues have been reported in the HumanGene Mutation Database in association with arrhythmia (Stenson et al., 2014).Therefore, based on the currently available information, it is unclear whether this variant ispathogenic or rare benign.
Invitae RCV001078815 SCV001011854 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing

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