ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13709G>A (p.Arg4570His) (rs730254)

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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 RCV000041745 SCV000065441 benign not specified 2011-11-03 criteria provided, single submitter clinical testing Arg4570His in exon 63 of USH2A: This variant has been identified in a proband wi th Usher syndrome type 2 and in a proband with nonsyndromic retinitis pigmentosa (McGee 2010). However, in both cases the variant was in heterozygous form witho ut a variant on the second allele and this variant was classified as benign (McG ee 2010). This is consistent with our computational analyses (PolyPhen, SIFT, Al ignGVGD) which do not suggest a high likelihood of impact to the protein. In add ition, this variant has also been reported in dbSNP with a frequency of 0.6% (43 /6927) control chromosomes (rs730254). In summary, this evidence suggests the va riant is benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041745 SCV000332495 likely benign not specified 2015-10-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585560 SCV000692662 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Invitae RCV000585560 SCV001037460 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000041745 SCV000730479 likely benign not specified 2018-02-07 no assertion criteria provided 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.

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