ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) (rs111033275)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041719 SCV000065415 likely benign not specified 2015-04-24 criteria provided, single submitter clinical testing p.Arg4115Cys in exon 63 of USH2A: This variant has been reported in 8 individual s with Usher syndrome and 2 individuals with retinitis pigmentosa. However, 3 of the individuals with Usher syndrome carried another pathogenic variant on the s ame allele and 4 of the 10 individuals carried 2 pathogenic variants in USH2A th at were sufficient to explain their disease. As a result, this variant is not ex pected to have clinical significance. It has also been identified in 32/66436 Eu ropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi; dbSNP rs111033275).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727295 SCV000707355 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Mendelics RCV000986518 SCV001135533 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000727295 SCV001220653 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 4115 of the USH2A protein (p.Arg4115Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs111033275, ExAC 0.05%). This variant has been observed in several individuals affected with autosomal recessive retinitis pigmentosa (arRP) (PMID: 22334370). ClinVar contains an entry for this variant (Variation ID: 48397). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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 RCV001074716 SCV001240309 uncertain significance Retinal dystrophy 2019-04-16 criteria provided, single submitter clinical testing

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