ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=)

gnomAD frequency: 0.00001  dbSNP: rs1332817040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001726652 SCV001998653 uncertain significance not provided 2020-01-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Clinical Genetics, Academic Medical Center RCV001700890 SCV001919124 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726652 SCV001967167 likely benign not provided no assertion criteria provided clinical testing

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