ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) (rs369438564)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724244 SCV000230648 uncertain significance not provided 2014-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000724244 SCV000329183 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing The S1882P variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. The S1882P variant was not observed with any significant frequency in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or in the 1000 Genomes Project. The S1882P 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. Additionally, this substitution occurs at a position that is conserved across species. Nevertheless, in silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with disease (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.
Invitae RCV000525777 SCV000627571 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724244 SCV001148539 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing

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