ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.419C>A (p.Ala140Asp)

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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 RCV005304196 SCV005959196 uncertain significance Inborn genetic diseases 2025-01-06 criteria provided, single submitter clinical testing The p.A140D variant (also known as c.419C>A), located in coding exon 3 of the USB1 gene, results from a C to A substitution at nucleotide position 419. The alanine at codon 140 is replaced by aspartic acid, an amino acid with dissimilar 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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