ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)

dbSNP: rs61752417
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408464 SCV000281863 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198727 SCV001369722 likely pathogenic Age related macular degeneration 2 2019-12-04 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV000085564 SCV001555964 likely pathogenic not provided 2023-05-08 criteria provided, single submitter clinical testing 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: 99213). This missense change has been observed in individual(s) with Stargardt disease (PMID: 29847635; Invitae). 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 1091 of the ABCA4 protein (p.Gly1091Glu). Experimental studies have shown that this missense change affects ABCA4 function (PMID: 29847635). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Retina International RCV000085564 SCV000117701 not provided not provided no assertion provided not provided

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