ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.333_350del (p.Ala113_Ala118del)

dbSNP: rs1462665726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598795 SCV000710402 uncertain significance not provided 2020-10-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on protein structure/function; In-frame deletion in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31618753)
Invitae RCV002532694 SCV002931618 uncertain significance Pierpont syndrome 2022-05-15 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. ClinVar contains an entry for this variant (Variation ID: 504096). This variant, c.333_350del, results in the deletion of 6 amino acid(s) of the TBL1XR1 protein (p.Ala113_Ala118del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with TBLXR1-related conditions (PMID: 31618753). In at least one individual the variant was observed to be de novo.

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