ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) (rs113106943)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000416254 SCV000202089 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408525 SCV000281904 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381856 SCV000359300 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285181 SCV000359301 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323858 SCV000359302 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376503 SCV000359303 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000416254 SCV000490379 uncertain significance not provided 2018-02-12 criteria provided, single submitter clinical testing The G1591R variant has been reported previously in association with ABCA4-related disorders (Müller et al., 2015; Bauwens et al., 2015); however, no other ABCA4 variants were observed in the patient described in the Bauwens et al. study. One additional study also reported the G1591R variant, but only as an additional variant that had been identified in a single patient whose phenotype could be otherwise explained by a variant in another gene (Eisenberger et al., 2013). The G1591R variant is observed in 703/277,212 (0.2536%) total alleles in large population cohorts (Lek et al., 2016). The G1591R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret G1591Ras a variant of uncertain significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416254 SCV000493538 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Invitae RCV000416254 SCV001106747 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073617 SCV001239168 uncertain significance Retinal dystrophy 2019-07-19 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504993 SCV000598985 likely pathogenic Cone/cone-rod dystrophy 2015-01-01 no assertion criteria provided research

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