Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 |
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, |
RCV001273040 | SCV001455623 | uncertain significance | Usher syndrome type 2A | 2019-11-07 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000726921 | SCV001919138 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000726921 | SCV001959217 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000726921 | SCV001965456 | likely benign | not provided | no assertion criteria provided | clinical testing |