ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.776T>C (p.Phe259Ser)

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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 RCV004971884 SCV005530760 uncertain significance Inborn genetic diseases 2024-11-21 criteria provided, single submitter clinical testing The p.F259S variant (also known as c.776T>C), located in coding exon 7 of the USB1 gene, results from a T to C substitution at nucleotide position 776. The phenylalanine at codon 259 is replaced by serine, an amino acid with highly dissimilar 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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