ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.130G>A (p.Val44Ile)

dbSNP: rs1553817638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624456 SCV000742613 uncertain significance Inborn genetic diseases 2017-05-30 criteria provided, single submitter clinical testing
Invitae RCV001069668 SCV001234854 uncertain significance Pierpont syndrome 2022-11-23 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 521844). 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 valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 44 of the TBL1XR1 protein (p.Val44Ile).

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