ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)

dbSNP: rs201996979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073357 SCV001238897 likely pathogenic Retinal dystrophy 2018-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001247223 SCV001420632 pathogenic not provided 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1687 of the ABCA4 protein (p.Ile1687Phe). This variant is present in population databases (rs201996979, gnomAD 0.008%). This missense change has been observed in individuals with retinal disease (PMID: 17932850, 29555955). ClinVar contains an entry for this variant (Variation ID: 865833). 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.
GeneDx RCV001247223 SCV001985367 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in individuals with autosomal recessive retinitis pigmentosa and with Stargardt disease in published literature (Stenirri et al., 2007; Birtel et al., 2018); This variant is associated with the following publications: (PMID: 17932850, 29555955, 30140905)
Fulgent Genetics, Fulgent Genetics RCV005029673 SCV005658764 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-03-31 criteria provided, single submitter clinical testing

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