ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup)

dbSNP: rs1057517592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411210 SCV000489213 uncertain significance Von Hippel-Lindau syndrome 2016-09-09 criteria provided, single submitter clinical testing
Invitae RCV000691373 SCV000819149 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-10 criteria provided, single submitter clinical testing This variant, c.83_100dup, results in the insertion of 6 amino acid(s) of the VHL protein (p.Asp28_Ser33dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 371945). 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.

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