ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.458T>A (p.Leu153Gln) (rs193922611)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030587 SCV000053263 likely pathogenic Von Hippel-Lindau syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Ambry Genetics RCV001022748 SCV001184518 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing The p.L153Q variant (also known as c.458T>A), located in coding exon 2 of the VHL gene, results from a T to A substitution at nucleotide position 458. The leucine at codon 153 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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