ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) (rs41276445)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000609479 SCV000711554 uncertain significance not specified 2017-08-10 criteria provided, single submitter clinical testing The p.Ile770Ile variant in CACNA1D has not been previously reported in individua ls with hearing loss or SANDD syndrome, but has been identified in 0.06% (20/344 20) of Latino chromosomes and 0.04% (53/126716) European chromosomes by the Geno me Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs41276 445). Although this variant has been seen in the general population, its frequen cy is not high enough to rule out a pathogenic role. Computational tools suggest that this variant may create a new 3' splicing site, though this information is not predictive enough to determine pathogenicity. In summary, the clinical sign ificance of the p.Ile770Ile variant is uncertain.
Invitae RCV000886164 SCV001029654 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477872 SCV000536827 uncertain significance Sinoatrial node dysfunction and deafness 2015-10-30 no assertion criteria provided research

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