ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)

gnomAD frequency: 0.00001  dbSNP: rs61750658
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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 RCV000085829 SCV001407159 pathogenic not provided 2024-01-21 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 2188 of the ABCA4 protein (p.Phe2188Ser). This variant is present in population databases (rs61750658, gnomAD 0.006%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 23755871, 26161775, 26780318). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99468). 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.
Fulgent Genetics, Fulgent Genetics RCV005025168 SCV005656841 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-03-29 criteria provided, single submitter clinical testing
Retina International RCV000085829 SCV000117972 not provided not provided no assertion provided not provided
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002806 SCV001160818 pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research

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