Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV000171355 | SCV000221552 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Genetic Services Laboratory, |
RCV000504467 | SCV000595564 | uncertain significance | not specified | 2016-07-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002513788 | SCV003290032 | uncertain significance | Muscular dystrophy-dystroglycanopathy type B6 | 2022-08-06 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 598 of the LARGE1 protein (p.Glu598Lys). This variant is present in population databases (rs144045461, gnomAD 0.006%). This missense change has been observed in individual(s) with LARGE1-related conditions (PMID: 28556411). ClinVar contains an entry for this variant (Variation ID: 72928). 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 tolerated. 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. |