Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000225304 | SCV000298027 | pathogenic | TELO2-related intellectual disability-neurodevelopmental disorder | criteria provided, single submitter | research | ||
Invitae | RCV002516248 | SCV003443020 | uncertain significance | not provided | 2022-08-22 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TELO2 protein function. ClinVar contains an entry for this variant (Variation ID: 236228). This missense change has been observed in individual(s) with clinical features of You-Hoover-Fong syndrome (PMID: 27132593). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 260 of the TELO2 protein (p.Pro260Leu). |
OMIM | RCV000225304 | SCV000282069 | pathogenic | TELO2-related intellectual disability-neurodevelopmental disorder | 2019-09-10 | no assertion criteria provided | literature only |