ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.183G>C (p.Met61Ile)

gnomAD frequency: 0.00001  dbSNP: rs750987349
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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 RCV001237282 SCV001410037 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing This missense change has been observed in individuals with Stargardt disease (PMID: 29925512). ClinVar contains an entry for this variant (Variation ID: 963276). 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. For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs750987349, gnomAD 0.01%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 61 of the ABCA4 protein (p.Met61Ile).

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