ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.133G>T (p.Val45Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005304201 SCV005959207 uncertain significance Inborn genetic diseases 2025-01-19 criteria provided, single submitter clinical testing The p.V45L variant (also known as c.133G>T), located in coding exon 2 of the USB1 gene, results from a G to T substitution at nucleotide position 133. The valine at codon 45 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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