ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.277_294del (p.Gly93_Tyr98del) (rs1559426059)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696355 SCV000824912 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-03-30 criteria provided, single submitter clinical testing This variant, c.277_294del, results in the deletion of 6 amino acids of the VHL protein (p.Gly93_Tyr98del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with VHL-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. A missense substitution at one of the deleted codons (p.Gly93Ser) has been determined to be pathogenic (PMID: 8707293, 17922902, 17661816, 12000816, 9329368). This suggests that the glycine residue is critical for VHL protein function and that deletion at this position may also be pathogenic. 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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