ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.392A>G (p.His131Arg)

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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 RCV004971890 SCV005530772 uncertain significance Inborn genetic diseases 2024-11-23 criteria provided, single submitter clinical testing The p.H131R variant (also known as c.392A>G), located in coding exon 3 of the USB1 gene, results from an A to G substitution at nucleotide position 392. The histidine at codon 131 is replaced by arginine, 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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