ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)

gnomAD frequency: 0.00001  dbSNP: rs61748526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085466 SCV001494065 pathogenic not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 75 of the ABCA4 protein (p.Cys75Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with ABCA4-related conditions (PMID: 9973280, 23982839, 30093795). ClinVar contains an entry for this variant (Variation ID: 99122). 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.
Retina International RCV000085466 SCV000117603 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504688 SCV000598949 likely pathogenic Severe early-childhood-onset retinal dystrophy 2015-01-01 no assertion criteria provided research

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