ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)

gnomAD frequency: 0.00003  dbSNP: rs61750564
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408469 SCV000281912 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Invitae RCV000085697 SCV001380885 pathogenic not provided 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1696 of the ABCA4 protein (p.Ser1696Asn). This variant is present in population databases (rs61750564, gnomAD 0.02%). This missense change has been observed in individuals with Stargardt disease (PMID: 18854780, 20128570, 24409374, 29854428). ClinVar contains an entry for this variant (Variation ID: 99344). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000085697 SCV001786187 likely pathogenic not provided 2020-11-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 9973280, 31589614, 29854428, 28044389, 28118664, 24409374, 19265867, 18854780, 28365912, 18652558, 25097154, 22076985, 21873672, 19324865)
Fulgent Genetics, Fulgent Genetics RCV002490743 SCV002788206 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2021-11-08 criteria provided, single submitter clinical testing
Retina International RCV000085697 SCV000117837 not provided not provided no assertion provided not provided

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