Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002515610 | SCV003443310 | uncertain significance | not provided | 2022-03-23 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 16 of the USH1G protein (p.Leu16Val). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 226440). This missense change has been observed in individual(s) with clinical features of Usher syndrome (PMID: 21569298). This variant is present in population databases (no rsID available, gnomAD 0.007%). |
Gene |
RCV000220910 | SCV000268764 | likely pathogenic | Usher syndrome type 1 | 2016-05-19 | no assertion criteria provided | literature only |