ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.470A>G (p.Asp157Gly)

dbSNP: rs2147790181
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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 RCV002030386 SCV002270248 uncertain significance Syndromic X-linked intellectual disability 14 2020-11-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 157 of the UPF3B protein (p.Asp157Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with UPF3B-related conditions. This variant is not present in population databases (ExAC no frequency).

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