ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2782G>T (p.Gly928Trp)

dbSNP: rs398123337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078663 SCV000110522 uncertain significance not provided 2013-08-14 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074049 SCV001239617 uncertain significance Retinal dystrophy 2018-11-13 criteria provided, single submitter clinical testing
Invitae RCV000078663 SCV001539244 uncertain significance not provided 2023-06-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 928 of the ABCA4 protein (p.Gly928Trp). 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. ClinVar contains an entry for this variant (Variation ID: 92865). This missense change has been observed in individual(s) with Stargardt disease (PMID: 20647261). This variant is not present in population databases (gnomAD no frequency).

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