ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr)

gnomAD frequency: 0.00022  dbSNP: rs375411293
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768329 SCV000899009 uncertain significance Pierpont syndrome; Intellectual disability, autosomal dominant 41 2021-11-11 criteria provided, single submitter clinical testing TBL1XR1 NM_024665.5 exon 5 p.Ala115Thr (c.343G>A): This variant has not been reported in the literature but is present in 34/125618 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs375411293). This variant amino acid Threonine (Thr) is present in 7 species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000809213 SCV000949356 likely benign Pierpont syndrome 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001692285 SCV001915186 benign not provided 2019-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458375 SCV002617113 likely benign Inborn genetic diseases 2024-02-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001692285 SCV004149429 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing TBL1XR1: PP2, BP4, BS2
PreventionGenetics, part of Exact Sciences RCV004549838 SCV004759896 likely benign TBL1XR1-related disorder 2023-07-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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