ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)

gnomAD frequency: 0.00002  dbSNP: rs62645952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857474 SCV002169067 pathogenic not provided 2024-12-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 255 of the ABCA4 protein (p.Arg255Cys). This variant is present in population databases (rs62645952, gnomAD 0.1%). This missense change has been observed in individual(s) with cone-rod dystrophy and/or Stargardt disease (PMID: 12515255, 33090715). ClinVar contains an entry for this variant (Variation ID: 143077). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. This variant disrupts the p.Arg255 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been observed in individuals with ABCA4-related conditions (PMID: 32531858), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Dept Of Ophthalmology, Nagoya University RCV003888541 SCV004706705 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796035 SCV005416050 uncertain significance Severe early-childhood-onset retinal dystrophy criteria provided, single submitter clinical testing PM2_Supporting+PM3+PP4
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132594 SCV000172541 pathogenic Cone-rod dystrophy 3 no assertion criteria provided not provided Converted during submission to Pathogenic.

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