ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) (rs35874056)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000238814 SCV000296958 uncertain significance not specified 2015-08-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000238814 SCV000711549 likely benign not specified 2017-10-24 criteria provided, single submitter clinical testing p.Gly460Ser in exon 9 of CACNA1D: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 23 mammals have a Serine (Ser) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has also been identified in 46/126 640 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org; dbSNP rs35874056). ACMG/AMP Criteria applied: BS2 (Richar ds 2015).

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