ClinVar Miner

Submissions for variant NM_001354723.2(VHL):c.*42T>C (rs28940297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231697 SCV001404228 likely pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-08-23 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 163 of the VHL protein (p.Leu163Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Von Hippel-Lindau syndrome (PMID: 19270817, Invitae). ClinVar contains an entry for this variant (Variation ID: 2231). This variant has been reported to affect VHL protein function (PMID: 11986208). This variant disrupts the p.Leu163 amino acid residue in VHL. Other variant(s) that disrupt this residue have been observed in individuals with VHL-related conditions (PMID: 29124493, 15607616), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000002319 SCV000022477 pathogenic Renal cell carcinoma with paraneoplastic erythrocytosis 2002-05-15 no assertion criteria provided literature only

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