ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)

gnomAD frequency: 0.00003  dbSNP: rs754982440
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000585524 SCV000337004 uncertain significance not provided 2015-11-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585524 SCV000693360 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626987 SCV000747690 uncertain significance Cataract; Microcephaly; Severe global developmental delay 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000585524 SCV001779051 likely benign not provided 2022-06-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002518925 SCV003035448 uncertain significance Syndromic X-linked intellectual disability 14 2022-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518925 SCV003460815 uncertain significance Syndromic X-linked intellectual disability 14 2023-10-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 253 of the UPF3B protein (p.Ile253Thr). This variant is present in population databases (rs754982440, gnomAD 0.009%). 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: 284394). 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 not expected to disrupt UPF3B 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.

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