ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)

gnomAD frequency: 0.00001  dbSNP: rs61750153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376269 SCV001573352 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-04-08 criteria provided, single submitter research The ABCA4 c.4748T>C variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP1-M, PM3. Based on this evidence we have classified this variant as Likely Pathogenic.
Invitae RCV000085669 SCV004292497 pathogenic not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1583 of the ABCA4 protein (p.Leu1583Pro). This variant is present in population databases (rs61750153, gnomAD 0.01%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 33301772, 33691693). ClinVar contains an entry for this variant (Variation ID: 99316). 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. For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085669 SCV000117809 not provided not provided no assertion provided not provided

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