ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)

gnomAD frequency: 0.00013  dbSNP: rs111033514
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041879 SCV000065575 likely benign not specified 2017-05-02 criteria provided, single submitter clinical testing p.His2045Arg in exon 31 of USH2A: This variant is not expected to have clinical significance because the histidine (His) at position 2045 is not conserved throu gh species, with 4 mammals (naked mole rat, David's myotis (bat), microbat, big brown bat) having an arginine (Arg) at this position. The variant has been repo rted in 16/126668 European chromosomes by the gnomAD population database (http:/ /gnomad.broadinstitute.org; dbSNP rs111033514).
Eurofins Ntd Llc (ga) RCV000726921 SCV000704178 uncertain significance not provided 2016-12-20 criteria provided, single submitter clinical testing
Counsyl RCV000664994 SCV000789044 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV000726921 SCV001418449 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 2045 of the USH2A protein (p.His2045Arg). This variant is present in population databases (rs111033514, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of Usher syndrome, type 2A (Invitae). ClinVar contains an entry for this variant (Variation ID: 48553). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001273040 SCV001455623 uncertain significance Usher syndrome type 2A 2019-11-07 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000726921 SCV001919138 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000726921 SCV001959217 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726921 SCV001965456 likely benign not provided no assertion criteria provided clinical testing

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