ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.614G>T (p.Cys205Phe)

dbSNP: rs1662214905
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233770 SCV001406380 pathogenic not provided 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 205 of the ABCA4 protein (p.Cys205Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Stargardt disease (PMID: 28559085; internal data). ClinVar contains an entry for this variant (Variation ID: 960271). 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.Cys205 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 37217489; internal data). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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