ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.736G>A (p.Val246Met)

gnomAD frequency: 0.00001  dbSNP: rs751177454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055770 SCV001220176 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV005298686 SCV005959179 uncertain significance Inborn genetic diseases 2024-12-16 criteria provided, single submitter clinical testing The p.V246M variant (also known as c.736G>A), located in coding exon 7 of the USB1 gene, results from a G to A substitution at nucleotide position 736. The valine at codon 246 is replaced by methionine, an amino acid with highly 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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