ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) (rs61749410)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000273447 SCV000359464 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330796 SCV000359465 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387613 SCV000359466 likely pathogenic Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing Across a selection of the available literature, the c.1805G>A (p.Arg602Gln) variant has been reported in a total of seven patients with Stargardt disease including one in a homozygous state, four in a compound heterozygous state, and two in a heterozygous state in whom a second variant has not been identified (Briggs et al. 2001; Webster et al. 2001; Ernest et al. 2009; Burke et al. 2010; Zernant et al. 2011; Fujinami et al. 2013; Gemenetzi et al. 2013). The authors suggested the presence of the variant in a heterozygous state in patients may be attributed to the large size and allelic heterogeneity of the ABCA4 gene. Overlapping phenotypes with other ABCA4 associated diseases such as cone-rod dystrophy, dominant forms of macular deneration, and retinitis pigmentosa may also complicate the identification of disease-causing ABCA4 variants. The p.Arg602Gln variant was absent from at least 96 controls and is reported at a frequency of 0.00023 in the African American population of the Exome Sequencing Project, but this is based on one allele in an area of good coverage so the variant is presumed to be rare. The variant is significantly over-represented in the affected population, and is likely contributing to disease. Based on the evidence, the p.Arg602Gln variant is classified as likely pathogenic for Stargardt disease.
Illumina Clinical Services Laboratory,Illumina RCV000277127 SCV000359467 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778262 SCV000914434 likely pathogenic ABCA4-Related Disorders 2017-04-27 criteria provided, single submitter clinical testing Across a selection of the available literature, the ABCA4 c.1805G>A (p.Arg602Gln) missense variant has been reported in a total of seven individuals with Stargardt disease including in one in a homozygous state, four in a compound heterozygous state, and two in a heterozygous state in whom a second variant has not been identified (Briggs et al. 2001; Webster et al. 2001; Ernest et al. 2009; Burke et al. 2010; Zernant et al. 2011; Fujinami et al. 2013; Gemenetzi et al. 2013). The authors suggested the presence of the variant in a heterozygous state in patients may be attributed to the large size and allelic heterogeneity of the ABCA4 gene. Overlapping phenotypes with other ABCA4 associated diseases such as cone-rod dystrophy, dominant forms of macular deneration, and retinitis pigmentosa may also complicate the identification of disease-causing ABCA4 variants. The p.Arg602Gln variant was absent from at least 96 controls and is reported at a frequency of 0.00023 in the African American population of the Exome Sequencing Project, but this is based on one allele in an area of good coverage so the variant is presumed to be rare. The variant is significantly over-represented in the affected population, and is likely contributing to disease. Based on the evidence, the p.Arg602Gln variant is classified as likely pathogenic for ABCA4-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Retina International RCV000085429 SCV000117566 not provided not provided no assertion provided not provided

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