ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1230A>G (p.Thr410=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003402234 SCV004104220 uncertain significance UPF3B-related disorder 2023-03-09 criteria provided, single submitter clinical testing The UPF3B c.1230A>G variant is not predicted to result in an amino acid change (p.=). This variant is predicted to alter splicing based on available splicing prediction programs (Alamut Visual Plus v1.6.1). However, the use of computer prediction programs is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003512220 SCV004282230 likely benign Syndromic X-linked intellectual disability 14 2023-09-06 criteria provided, single submitter clinical testing

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