ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)

gnomAD frequency: 0.00003  dbSNP: rs61748521
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000085848 SCV000780280 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075235 SCV001240849 uncertain significance Retinal dystrophy 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV000085848 SCV001408552 pathogenic not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2241 of the ABCA4 protein (p.Leu2241Val). This variant is present in population databases (rs61748521, gnomAD 0.02%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 29925512; Invitae). ClinVar contains an entry for this variant (Variation ID: 99487). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324515 SCV004030357 likely pathogenic Stargardt disease 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Retina International RCV000085848 SCV000117991 not provided not provided no assertion provided not provided

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