Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809229 | SCV000949372 | uncertain significance | Luscan-Lumish syndrome | 2022-09-07 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 678 of the SETD2 protein (p.Gly678Arg). This variant is present in population databases (rs145499611, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SETD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 653452). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Revvity Omics, |
RCV003489900 | SCV004237222 | uncertain significance | not provided | 2023-04-04 | criteria provided, single submitter | clinical testing |