ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.392A>G (p.Asn131Ser) (rs1553619963)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590750 SCV000697509 likely pathogenic Von Hippel-Lindau syndrome 2016-02-09 criteria provided, single submitter clinical testing Variant summary: VHL c.392A>G variant affects a conserved nucleotide, resulting in an amino acid change from Asn to Ser at codon 131 in beta domain of the protein. 2/4 in-silico tools predict this variant to be damaging. Other mutations including missense mutations at residue 131 (such as N131T, N131K, N131Y, N131X, N131fsX3, etc.) have been reported in patients affected with VHL disease, suggesting that the codon 131 is likely to be a hot-spot for mutation. This variant has been reported in two Japanese VHL families (Yoshida_2000, Imanaka_2006); two affected brothers were shown to carry the variant in one family suggesting the cosegregation of the variant in the family. The variant was not found in approximately 121412 control chromosomes from the large and diverse ExAC cohorts. Taken together, this variant is currently classified as a Probable Disease Variant (or Likely Pathogenic).

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