ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.407T>C (p.Phe136Ser) (rs5030833)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000587621 SCV000897820 likely pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587621 SCV000697513 pathogenic Von Hippel-Lindau syndrome 2016-02-09 criteria provided, single submitter clinical testing Variant summary: This c.407T>C variant affects a non-conserved nucleotide, resulting in amino acid change from Phe to Ser in MCR-2 domain of VHL protein. 3/4 in-silico tools predict this variant to be damaging. This variant was found in 1/121604 control chromosomes at a frequency of 0.0000082, which does not exceed the maximal expected frequency of a pathogenic allele (0.0000208) in this gene. This variant has been reported in several VHL patients/families along with evidence of cosegregation with disease (Gallou_2004). Other missense variants at the same residue such as F136S and F136C have also been reported in VHL patients, suggesting the codon 136 is likely to be a hotspot for mutations. At least one reputable database has classified this variant as disease-causing. Taken together, this variant has been classified as a Pathogenic.
PreventionGenetics RCV000679038 SCV000805346 pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing

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