ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.539T>G (p.Ile180Ser) (rs1559429750)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000767290 SCV000897848 uncertain significance Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174736 SCV001338025 uncertain significance not specified 2020-12-10 criteria provided, single submitter clinical testing Variant summary: VHL c.539T>G (p.Ile180Ser) results in a non-conservative amino acid change located in the beta/alpha domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251422 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.539T>G in individuals affected with Von Hippel-Lindau Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One other clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory cited the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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