ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)

gnomAD frequency: 0.00009  dbSNP: rs149071415
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047033 SCV001210965 pathogenic not provided 2025-01-12 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 938 of the ABCA4 protein (p.Phe938Ser). This variant is present in population databases (rs149071415, gnomAD 0.05%). This missense change has been observed in individuals with ABCA4-related conditions (PMID: 28041643, 29925512; internal data). ClinVar contains an entry for this variant (Variation ID: 438091). 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%. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000504891 SCV001240414 pathogenic Retinal dystrophy 2019-07-11 criteria provided, single submitter clinical testing
GeneDx RCV001047033 SCV001763949 uncertain significance not provided 2020-01-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32581362, 29925512, 28041643)
Fulgent Genetics, Fulgent Genetics RCV005034047 SCV005659505 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-02-13 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504891 SCV000598953 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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