ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2905A>G (p.Lys969Glu)

dbSNP: rs1660700260
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247612 SCV001421045 pathogenic not provided 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 969 of the ABCA4 protein (p.Lys969Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of ABCA4-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 971758). 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.
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV004557489 SCV005046950 pathogenic Stargardt disease 3 no assertion criteria provided research

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