ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.490C>A (p.Gln164Lys)

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Total submissions: 1
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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 RCV001526916 SCV001737671 uncertain significance not specified 2021-06-07 criteria provided, single submitter clinical testing Variant summary: VHL c.490C>A (p.Gln164Lys) results in a conservative amino acid change located in the beta/alpha domain (IPR022772) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251444 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.490C>A in individuals affected with Von Hippel-Lindau Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. A variant resulting in a different amino acid substitution at this position (c.491A>G, p.Gln164Arg) has been classified as pathogenic by our laboratory, suggesting that this region may be functionally important. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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