ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4754G>A (p.Arg1585Gln)

gnomAD frequency: 0.00001  dbSNP: rs754298400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177682 SCV000229593 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing
Invitae RCV000177682 SCV002991892 uncertain significance not provided 2023-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1585 of the ABCA4 protein (p.Arg1585Gln). This variant is present in population databases (rs754298400, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 196811). 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 not expected to disrupt ABCA4 protein function with a negative predictive value of 95%. 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.

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