ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) (rs730254)

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Total submissions: 10
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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 2017-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000041745 SCV000730479 likely benign not specified 2018-02-07 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.
Invitae RCV000585560 SCV001037460 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041745 SCV001160361 likely benign not specified 2019-02-15 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376370 SCV001573487 uncertain significance Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.13709G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: BP4. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Nilou-Genome Lab RCV001272941 SCV001737211 likely benign Usher syndrome, type 2A 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272941 SCV001455392 benign Usher syndrome, type 2A 2020-01-13 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000585560 SCV001920692 likely benign not provided no assertion criteria provided clinical testing

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