ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.793A>G (p.Lys265Glu)

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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 RCV005304208 SCV005963167 uncertain significance Inborn genetic diseases 2025-02-07 criteria provided, single submitter clinical testing The p.K265E variant (also known as c.793A>G), located in coding exon 7 of the USB1 gene, results from an A to G substitution at nucleotide position 793. The lysine at codon 265 is replaced by glutamic acid, an amino acid with 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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