ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5858C>G (p.Ala1953Gly) (rs41302239)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726918 SCV000704147 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765069 SCV000896269 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000726918 SCV000970669 likely benign not provided 2018-04-09 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041872 SCV000065568 uncertain significance not specified 2015-04-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala1953Gly va riant in USH2A has been reported in 5 individuals with isolated retinitis pigmen tosa or Usher syndrome and in 2 individuals with hearing loss; however, an alter nate explanation for the phenotype was identified in one of the individuals with Usher syndrome (Clark 2010, McGee 2010, LMM unpublished data). This variant has been identified in 0.1% (67/66532) of European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs41302239), howeve r, this frequency is not high enough to rule out a pathogenic role. The alanine (Ala) at position 1953 is not conserved in mammals or evolutionary distant spec ies, raising the possibility that a change at this position may be tolerated. Ad ditional computational tools do not provide strong support for or against an imp act to the protein. In summary, while the clinical significance of the p.Ala1953 Gly variant is uncertain, the frequency and conservation data suggest that it is more likely to be benign.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504937 SCV000598816 uncertain significance Retinal dystrophy 2015-01-01 no assertion criteria provided research

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