Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688233 | SCV000815836 | uncertain significance | GNE myopathy; Sialuria | 2022-09-16 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 392 of the GNE protein (p.Tyr392His). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 568002). This missense change has been observed in individual(s) with myopathy (PMID: 29480215). |
Revvity Omics, |
RCV003129995 | SCV003815053 | uncertain significance | not provided | 2021-03-20 | criteria provided, single submitter | clinical testing |