ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)

gnomAD frequency: 0.00008  dbSNP: rs375184282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199622 SCV001162386 pathogenic Isolated macular dystrophy 2020-01-09 criteria provided, single submitter research
Institute of Medical Molecular Genetics, University of Zurich RCV001352943 SCV001548010 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001450679 SCV001654293 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001450679 SCV005373042 likely pathogenic not provided 2024-04-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31212395, 29178665, 33546218, 32531858, 35260635, Saleh2021[Case report], 37498587)

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