ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.547C>G (p.Leu183Val)

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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 RCV004971889 SCV005530771 uncertain significance Inborn genetic diseases 2024-11-23 criteria provided, single submitter clinical testing The p.L183V variant (also known as c.547C>G), located in coding exon 5 of the USB1 gene, results from a C to G substitution at nucleotide position 547. The leucine at codon 183 is replaced by valine, 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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