ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.593T>C (p.Leu198Pro)

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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 RCV005304221 SCV005956307 uncertain significance Inborn genetic diseases 2025-03-14 criteria provided, single submitter clinical testing The p.L198P variant (also known as c.593T>C), located in coding exon 5 of the USB1 gene, results from a T to C substitution at nucleotide position 593. The leucine at codon 198 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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