ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)

gnomAD frequency: 0.00001  dbSNP: rs781716640
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074574 SCV001240165 pathogenic Retinal dystrophy 2018-12-31 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268174 SCV001446896 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001268174 SCV001590588 pathogenic not provided 2023-08-16 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: 866516). This missense change has been observed in individual(s) with Stargardt disease (PMID: 17893657, 23419329, 29854428, 29925512). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs781716640, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 290 of the ABCA4 protein (p.Arg290Trp).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729794 SCV001976707 pathogenic Severe early-childhood-onset retinal dystrophy 2021-10-01 criteria provided, single submitter clinical testing PM1, PM3, PM5, PP2, PP3, PP5
Revvity Omics, Revvity RCV001268174 SCV003824319 uncertain significance not provided 2020-03-27 criteria provided, single submitter clinical testing

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