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 uncertain significance not provided 2021-11-04 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
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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