ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.332G>A (p.Ser111Asn) (rs869025631)

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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 RCV000492721 SCV000580976 pathogenic Hereditary cancer-predisposing syndrome 2013-06-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000208834 SCV000697498 pathogenic Von Hippel-Lindau syndrome 2016-02-05 criteria provided, single submitter clinical testing Variant summary: This c.332G>A variant affects a conserved nucleotide, resulting in amino acid change from Ser to Asn. Although 4/4 in-silico tools predict this variant to be benign, no functional studies have been performed to confirm these predictions. This variant was not found in approximately 92088 control chromosomes including the broad and large populations from ExAC. In literature, the variant has been widely reported as a pathogenic variant found in several patients/families with VHL disease, including somatic occurrences. This p.Ser111 is likely to be a mutational hot-spot where other likely pathogenic variant [such as p.S111R (c.331A>C and c.333C>G), p.S111C, p.S111I, etc.] have also been reported. At least one reputable database classifies the variant as pathogenic. Taken together, this variant has been classified as a Pathogenic.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208834 SCV000264708 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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