ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)

gnomAD frequency: 0.00005  dbSNP: rs61748559
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000008357 SCV000281827 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000085416 SCV000343783 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085416 SCV000780286 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV000085416 SCV001198189 likely pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 572 of the ABCA4 protein (p.Arg572Gln). This variant is present in population databases (rs61748559, gnomAD 0.007%). This missense change has been observed in individual(s) with retinal disease, always in combination (often proven in cis) with the Pathogenic (low penetrance) variant p.Gly863Ala (PMID: 9973280, 10958763, 20647261, 28118664, 29555955, 29925512). ClinVar contains an entry for this variant (Variation ID: 7900). 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.Arg572 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8533764, 9973280). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Blueprint Genetics RCV001074326 SCV001239900 uncertain significance Retinal dystrophy 2019-07-09 criteria provided, single submitter clinical testing
OMIM RCV000008357 SCV000028565 pathogenic Severe early-childhood-onset retinal dystrophy 2000-02-01 no assertion criteria provided literature only
Retina International RCV000085416 SCV000117553 not provided not provided no assertion provided not provided

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