ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.1955C>T (p.Ser652Leu)

dbSNP: rs777591848
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420265 SCV001622685 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PM2_supporting;PM6_moderate;PP5_moderate;PP2_supporting;PP3_supporting
GeneDx RCV004720907 SCV005327453 pathogenic not provided 2024-03-05 criteria provided, single submitter clinical testing Reported in the published literature in patients with clinical features consistent with a CACNA1D-related disorder (PMID: 37122292, 31921405); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31921405, 33057194, 37122292, 35982159, 28191890)

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