ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+3A>G

dbSNP: rs1575922597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794955 SCV000934393 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-01 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the VHL gene. It does not directly change the encoded amino acid sequence of the VHL protein. It affects a nucleotide within the consensus splice site. 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: 641664). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV001020206 SCV001181654 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-22 criteria provided, single submitter clinical testing The c.340+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 1 in the VHL gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001592972 SCV001826650 likely benign not provided 2019-10-07 criteria provided, single submitter clinical testing

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