ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln)

gnomAD frequency: 0.00003  dbSNP: rs760353830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075476 SCV001241099 uncertain significance Retinal dystrophy 2018-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862615 SCV002164226 uncertain significance not provided 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1942 of the ABCA4 protein (p.Glu1942Gln). This variant is present in population databases (rs760353830, gnomAD 0.02%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 23419329). ClinVar contains an entry for this variant (Variation ID: 867010). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCA4 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV004564578 SCV005049257 uncertain significance Severe early-childhood-onset retinal dystrophy no assertion criteria provided research

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