ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)

dbSNP: rs1557787473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986370 SCV001135358 pathogenic Severe early-childhood-onset retinal dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000986370 SCV001548066 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV001858641 SCV002120864 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 616 of the ABCA4 protein (p.Glu616Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Stargardt disease (PMID: 19265867, 32307445). ClinVar contains an entry for this variant (Variation ID: 801518). 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.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002841 SCV001160862 likely pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research

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