ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4775G>A (p.Gly1592Asp)

gnomAD frequency: 0.00001  dbSNP: rs1425552175
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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 RCV001058053 SCV001222591 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1592 of the ABCA4 protein (p.Gly1592Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Stargardt disease (PMID: 30060493, 32845068, 33301772; Invitae). ClinVar contains an entry for this variant (Variation ID: 853274). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001058053 SCV002769992 uncertain significance not provided 2022-06-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30060493, 32845068, 33301772)

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