ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.52A>C (p.Thr18Pro)

gnomAD frequency: 0.00001  dbSNP: rs748622995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000395795 SCV000340685 uncertain significance not provided 2016-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859659 SCV002225377 uncertain significance Syndromic X-linked intellectual disability 14 2023-12-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 18 of the UPF3B protein (p.Thr18Pro). This variant is present in population databases (rs748622995, gnomAD 0.003%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with UPF3B-related conditions. ClinVar contains an entry for this variant (Variation ID: 287042). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002348008 SCV002645697 uncertain significance Inborn genetic diseases 2018-12-20 criteria provided, single submitter clinical testing The p.T18P variant (also known as c.52A>C), located in coding exon 1 of the UPF3B gene, results from an A to C substitution at nucleotide position 52. The threonine at codon 18 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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