Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041918 | SCV000065614 | pathogenic | Usher syndrome | 2019-02-07 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Counsyl | RCV000675158 | SCV000800775 | likely pathogenic | Usher syndrome, type 2A; Retinitis pigmentosa 39 | 2017-06-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001060026 | SCV001224686 | pathogenic | not provided | 2019-12-20 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 268 of the USH2A protein (p.Gly268Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs111033280, ExAC 0.006%). This variant has been observed to segregate with Usher syndrome in families and in unrelated in individuals affected with this condition (PMID: 29490346, 29625443, 25356976). ClinVar contains an entry for this variant (Variation ID: 48592). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074162 | SCV001239732 | pathogenic | Retinal dystrophy | 2019-02-05 | criteria provided, single submitter | clinical testing | |
Sharon lab, |
RCV001003288 | SCV001161371 | pathogenic | Usher syndrome type 2 | 2019-06-23 | no assertion criteria provided | research |