ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5498T>G (p.Leu1833Arg)

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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 RCV002297052 SCV002597552 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1833 of the ABCA4 protein (p.Leu1833Arg). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. 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. 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.
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV004565260 SCV005049252 likely pathogenic Severe early-childhood-onset retinal dystrophy no assertion criteria provided research

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