Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665419 | SCV000789539 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-02-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000665419 | SCV000896273 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001100751 | SCV001257287 | uncertain significance | Usher syndrome type 2A | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001101006 | SCV001257561 | uncertain significance | Retinitis pigmentosa | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Labcorp Genetics |
RCV002514776 | SCV003524086 | uncertain significance | not provided | 2022-02-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 805 of the USH2A protein (p.Gly805Ala). This variant is present in population databases (rs587783023, gnomAD 0.1%). This missense change has been observed in individual(s) with USH2A-related conditions (PMID: 25445212, 27057829, 33691693). ClinVar contains an entry for this variant (Variation ID: 156393). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |
Genome- |
RCV003453102 | SCV004182434 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001100751 | SCV004182435 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003888576 | SCV004708038 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Molecular Diagnostics Laboratory, |
RCV000144475 | SCV000189610 | uncertain significance | Leber congenital amaurosis | 2014-09-18 | no assertion criteria provided | clinical testing |