ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.155T>C (p.Met52Thr)

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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 RCV004971904 SCV005530801 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The p.M52T variant (also known as c.155T>C), located in coding exon 2 of the USB1 gene, results from a T to C substitution at nucleotide position 155. The methionine at codon 52 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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