ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.38A>G (p.Tyr13Cys)

dbSNP: rs1405162373
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001897037 SCV002176145 uncertain significance Pierpont syndrome 2022-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1402791). This variant has not been reported in the literature in individuals affected with TBL1XR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 13 of the TBL1XR1 protein (p.Tyr13Cys). 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 TBL1XR1 protein function. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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