ClinVar Miner

Submissions for variant NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)

gnomAD frequency: 0.00001  dbSNP: rs369656775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 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

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