ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.278G>A (p.Gly93Asp) (rs1553619440)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586256 SCV000697495 pathogenic Von Hippel-Lindau syndrome 2016-02-04 criteria provided, single submitter clinical testing Variant summary: c.278G>A affects a conserved nucleotide, resulting in amino acid change from Gly to Asp. 4/4 in-silico tools predict this variant to be damaging. This variant was not found in 101892 control chromosomes. This variant has been reported in multiple VHL pts and classified as pathgenic by literatures. Variants G93R, G93C, and G93S are all listed as disease mutation in HGMD and have been reported in multiple literatures, suggesting the codon 93 is a hypermutable amino acid and a hotspot for mutations. Taken together, this variant was classified as a Pathogenic.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000586256 SCV000897795 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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