ClinVar Miner

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

gnomAD frequency: 0.00041  dbSNP: rs35874056
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Total submissions: 5
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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, Mass General Brigham 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).
Genetic Services Laboratory, University of Chicago RCV000238814 SCV002065320 likely benign not specified 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854916 SCV002306488 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001854916 SCV002525339 uncertain significance not provided 2024-10-31 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with a CACNA1D-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 30402224, 30365130)

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