ClinVar Miner

Submissions for variant NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val)

gnomAD frequency: 0.00016  dbSNP: rs146752598
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625486 SCV000745558 uncertain significance Retinal cone dystrophy 4 2015-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000910597 SCV001055472 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625486 SCV001270490 likely benign Retinal cone dystrophy 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Clinical Genetics, Academic Medical Center RCV000910597 SCV001923518 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003905675 SCV004724244 likely benign CACNA2D4-related disorder 2023-08-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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