ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.-55del

gnomAD frequency: 0.00005  dbSNP: rs1361905543
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000679010 SCV000805313 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
Invitae RCV003768032 SCV004575260 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-12-14 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the VHL gene. It does not change the encoded amino acid sequence of the VHL protein. This variant is present in population databases (no rsID available, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with VHL-related conditions. ClinVar contains an entry for this variant (Variation ID: 560735). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
All of Us Research Program, National Institutes of Health RCV004004215 SCV004827732 uncertain significance Von Hippel-Lindau syndrome 2023-06-28 criteria provided, single submitter clinical testing This variant is located in the the 5' untranslated region of the VHL gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with VHL-related disorders in the literature. This variant has been identified in 3/31314 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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