ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) (rs61751389)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408561 SCV000281942 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Invitae RCV000085776 SCV001234634 pathogenic not provided 2020-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1973*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61751389, ExAC 0.03%). This variant has been observed in individual(s) with Stargardt disease and inherited retinal disease (PMID: 29099798, 28041643). ClinVar contains an entry for this variant (Variation ID: 99419). Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000504777 SCV001238899 pathogenic Retinal dystrophy 2018-12-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085776 SCV001247600 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
Retina International RCV000085776 SCV000117918 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504777 SCV000599004 pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research
Human Genetics - Radboudumc,Radboudumc RCV000678514 SCV000804585 pathogenic Age-related macular degeneration 2 2016-09-01 no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002810 SCV001160822 pathogenic maculopathy 2019-06-23 no assertion criteria provided research

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