ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)

dbSNP: rs2100994077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001725798 SCV001960891 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539754 SCV003324290 uncertain significance not provided 2022-09-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1298331). 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. This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2100 of the ABCA4 protein (p.Gly2100Glu).
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV001725798 SCV005049268 likely pathogenic Severe early-childhood-onset retinal dystrophy no assertion criteria provided research

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