ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)

gnomAD frequency: 0.00004  dbSNP: rs2297669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074913 SCV001240518 pathogenic Retinal dystrophy 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV001380601 SCV001578718 pathogenic not provided 2023-05-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 635988). This missense change has been observed in individual(s) with clinical features of ABCA4-related retinopathy (PMID: 11527935, 23143460, 29310964, 29925512, 30718709). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs2297669, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2107 of the ABCA4 protein (p.Arg2107Cys).
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787520 SCV000926488 uncertain significance Stargardt disease 2018-04-01 no assertion criteria provided research

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