ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.694G>A (p.Ala232Thr)

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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 RCV005304213 SCV005963184 uncertain significance Inborn genetic diseases 2025-02-21 criteria provided, single submitter clinical testing The p.A232T variant (also known as c.694G>A) is located in coding exon 7 of the USB1 gene. The alanine at codon 232 is replaced by threonine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 7. 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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