ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)

dbSNP: rs61752416
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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 RCV000408551 SCV000281862 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075184 SCV001240796 pathogenic Retinal dystrophy 2018-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085563 SCV001249467 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV000085563 SCV001378534 pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Glu1087 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19265867, 22264887, 28559085, 30576320). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 99212). This missense change has been observed in individual(s) with Stargardt disease or cone-rod dystrophy (PMID: 19074458, 29555955). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1087 of the ABCA4 protein (p.Glu1087Asp).
MGZ Medical Genetics Center RCV000408551 SCV002579109 likely pathogenic Severe early-childhood-onset retinal dystrophy 2022-04-01 criteria provided, single submitter clinical testing
Retina International RCV000085563 SCV000117700 not provided not provided no assertion provided not provided

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