ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)

dbSNP: rs62654395
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000132588 SCV000281802 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074366 SCV001239942 pathogenic Retinal dystrophy 2019-07-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085451 SCV001247765 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV000085451 SCV002247006 pathogenic not provided 2021-11-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 65 of the ABCA4 protein (p.Gly65Glu). This variant is present in population databases (rs62654395, gnomAD 0.0009%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 10206579, 28559085). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99107). 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. For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085451 SCV000117588 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132588 SCV000172532 pathogenic Severe early-childhood-onset retinal dystrophy no assertion criteria provided not provided Converted during submission to Pathogenic.

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