ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1001C>T (p.Pro334Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002380680 SCV002691386 uncertain significance Inborn genetic diseases 2020-04-30 criteria provided, single submitter clinical testing The p.P334L variant (also known as c.1001C>T), located in coding exon 9 of the UPF3B gene, results from a C to T substitution at nucleotide position 1001. The proline at codon 334 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005097411 SCV005827643 benign Syndromic X-linked intellectual disability 14 2024-10-16 criteria provided, single submitter clinical testing

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