ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340G>C (p.Gly114Arg)

dbSNP: rs869025636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV000208843 SCV004017785 pathogenic Von Hippel-Lindau syndrome 2023-04-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. mRNA analysis has demonstrated abnormal mRNA splicing occurs [PMID: 22825683]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 22265326, 34036514, 19464396, 12202531, 8956040].
Invitae RCV003765349 SCV004569522 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-09-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 114 of the VHL protein (p.Gly114Arg). This variant also falls at the last nucleotide of exon 1, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with von Hippel-Lindau syndrome (PMID: 7728151, 12202531, 19464396, 27527340). ClinVar contains an entry for this variant (Variation ID: 223193). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. For these reasons, this variant has been classified as Pathogenic.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000208843 SCV000264717 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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