ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)

dbSNP: rs1801269
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073590 SCV001239141 likely pathogenic Retinal dystrophy 2019-07-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405293 SCV004124076 likely pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing ABCA4: PM1, PM2, PM3, PM5
Labcorp Genetics (formerly Invitae), Labcorp RCV003405293 SCV004292512 pathogenic not provided 2024-04-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1129 of the ABCA4 protein (p.Arg1129His). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of ABCA4-related conditions (PMID: 23953153, 23982839, 32307445). ClinVar contains an entry for this variant (Variation ID: 865964). 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 with a positive predictive value of 95%. This variant disrupts the p.Arg1129 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19074458, 25097241, 25312043, 26092729, 29925512). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005036386 SCV005657388 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-05-16 criteria provided, single submitter clinical testing

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