ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.341C>T (p.Ala114Val)

gnomAD frequency: 0.00001  dbSNP: rs747826896
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707006 SCV000836083 uncertain significance Pierpont syndrome 2024-03-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 114 of the TBL1XR1 protein (p.Ala114Val). This variant is present in population databases (rs747826896, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with TBL1XR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 582829). 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 not expected to disrupt TBL1XR1 protein function with a negative predictive value of 95%. 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.

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