ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) (rs62646862)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000085654 SCV000602336 likely benign not provided 2017-05-29 criteria provided, single submitter clinical testing The ABCA4 c.455G>A;p.Arg152Gln variant has been described in the medical literature on the same allele as a pathogenic frameshift variant (Downes 2012). The variant is listed in the ClinVar database (Variation ID: 99301) and the dbSNP variant database (rs62646862) with an allele frequency of 0.2999 percent in the Exome Variant Server and 0.2520 percent in the Genome Aggregation Database. The amino acid at this position is moderately conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is tolerated. Considering available information, this variant is classified as likely benign. References: Downes SM et al. Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. Arch Ophthalmol. 2012 Nov;130(11):1486-90.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000402682 SCV000337021 likely benign not specified 2015-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000402682 SCV000511880 likely benign not specified 2018-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GenomeConnect, ClinGen RCV000844929 SCV000986745 not provided Stargardt disease no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 12/28/2017 by GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen RCV000408574 SCV000986821 not provided Stargardt disease 1 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 06/25/2018 by GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408574 SCV000281808 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085654 SCV000117794 not provided not provided no assertion provided not provided

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