ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.413C>T (p.Pro138Leu) (rs780178275)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064218 SCV001229104 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2020-02-05 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 138 of the VHL protein (p.Pro138Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs780178275, ExAC 0.006%). This variant has been observed in individual(s) with congenital polycythemia (PMID: 23538339). This variant has been reported to affect VHL protein function (PMID: 23538339). Experimental studies have shown that this variant disrupts (PMID: 29891534). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV001007630 SCV001167318 pathogenic Erythrocytosis, familial, 2 2011-07-01 no assertion criteria provided literature only

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