ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)

dbSNP: rs61750140
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085628 SCV002247414 pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1439 of the ABCA4 protein (p.Gly1439Asp). This variant is present in population databases (rs61750140, gnomAD 0.002%). This missense change has been observed in individuals with ABCA4-related conditions (PMID: 9973280, 23105016; Invitae). ClinVar contains an entry for this variant (Variation ID: 99275). 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. Experimental studies have shown that this missense change affects ABCA4 function (PMID: 32845050).
Retina International RCV000085628 SCV000117767 not provided not provided no assertion provided not provided
Faculty of Health Sciences, Beirut Arab University RCV001257845 SCV001434612 pathogenic Autosomal recessive retinitis pigmentosa 2012-10-26 no assertion criteria provided literature only

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