ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.208G>A (p.Glu70Lys) (rs5030802)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492137 SCV000580979 likely pathogenic Hereditary cancer-predisposing syndrome 2017-10-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s)
Integrated Genetics/Laboratory Corporation of America RCV000036540 SCV000697485 pathogenic Von Hippel-Lindau syndrome 2016-02-03 criteria provided, single submitter clinical testing Variant summary: The c.208G>A variant affects a conserved nucleotide, resulting in amino acid change from Glu to Lys. 4/4 in-silico tools predict benign outcome for this variant (SNPs&GO not captured due to low reliability index); however, these in silico predictions have not been verified with functional studies. This variant is found in 1/67270 control chromosomes at a frequency of 0.0000149, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0000208). This variant has been found in at least 10 unrelated VHL patients and is reported as the most common pathogenic variant in Korean patients (Hwang_2014). In addition, one clinical laboratory classified this variant as pathogenic. Taken together, this variant was classified as pathogenic.
Center for Human Genetics, Inc RCV000036540 SCV000782417 pathogenic Von Hippel-Lindau syndrome 2016-11-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036540 SCV000060195 pathogenic Von Hippel-Lindau syndrome 2007-04-11 no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000036540 SCV000264671 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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