ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.257C>T (p.Pro86Leu) (rs730882034)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492524 SCV000580955 pathogenic Hereditary cancer-predisposing syndrome 2017-09-27 criteria provided, single submitter clinical testing Well-characterized mutation at same position;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Other strong data supporting pathogenic classification
Integrated Genetics/Laboratory Corporation of America RCV000208836 SCV000697492 pathogenic Von Hippel-Lindau syndrome 2016-02-02 criteria provided, single submitter clinical testing Variant summary: c.257C>T affects a conserved nucleotide, resulting in amino acid change from Pro to Leu. 4/4 in-silico tools predict this variant to be damaging. This variant was not found in 102226 control chromosomes. This variant has been reported in multiple VHL pts with clear co-segregation of the variant with disease in the families. Variants P86A, P86R, and P86S are all listed as disease mutation in HGMD and have been reported in multiple publications, suggesting the codon 86 is a hypermutable amino acid and a hotspot for mutations. In addition, one clinical laboratory (via Clinvar) classified this variant as pathogenic. Taken together, this variant was classified as a Pathogenic.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208836 SCV000264685 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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