ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter)

dbSNP: rs376175156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784011 SCV002021602 likely pathogenic Syndromic X-linked intellectual disability 14 2021-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004731180 SCV005339747 likely pathogenic UPF3B-related disorder 2024-08-23 no assertion criteria provided clinical testing The UPF3B c.982G>T variant is predicted to result in premature protein termination (p.Glu328*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Nonsense variants in UPF3B are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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