ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.400A>G (p.Ile134Val)

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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 RCV005288475 SCV005956305 uncertain significance Inborn genetic diseases 2025-03-14 criteria provided, single submitter clinical testing The p.I134V variant (also known as c.400A>G), located in coding exon 3 of the USB1 gene, results from an A to G substitution at nucleotide position 400. The isoleucine at codon 134 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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