ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.104C>A (p.Ala35Asp) (rs587780536)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663333 SCV000786608 uncertain significance Von Hippel-Lindau syndrome 2018-06-06 criteria provided, single submitter clinical testing
Invitae RCV000119148 SCV000153867 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2016-02-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 35 of the VHL protein (p.Ala35Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. While this variant is not present in population databases (rs587780536), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a VHL-related disease. ClinVar contains an entry for this variant (Variation ID: 132707). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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