ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.640T>A (p.Ter214Arg) (rs1575932781)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987111 SCV001136315 likely pathogenic Von Hippel-Lindau syndrome 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025239 SCV001187392 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing The c.640T>A variant (also known as p.*214REXT*14), located in coding exon 3 of the VHL gene, results from a T to A substitution at nucleotide position 640, which is the last nucleotide of the VHL gene. The stop codon at position 214 is replaced by Arginine, resulting in an elongation of the protein by 14 amino acids. Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of VHL and is not expected to trigger nonsense-mediated mRNA decay. The exact functional impact of these inserted amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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