ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.112C>T (p.Leu38Phe)

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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 RCV005304189 SCV005959175 uncertain significance Inborn genetic diseases 2024-12-13 criteria provided, single submitter clinical testing The p.L38F variant (also known as c.112C>T), located in coding exon 2 of the USB1 gene, results from a C to T substitution at nucleotide position 112. The leucine at codon 38 is replaced by phenylalanine, 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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