ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003073734 SCV003448076 uncertain significance Syndromic X-linked intellectual disability 14 2021-12-30 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with UPF3B-related conditions. This variant is present in population databases (rs747700847, gnomAD 0.007%), including at least one homozygous and/or hemizygous individual. This variant, c.1174_1176del, results in the deletion of 1 amino acid(s) of the UPF3B protein (p.Glu392del), but otherwise preserves the integrity of the reading frame.

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