ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.326T>A (p.Ile109Asn)

dbSNP: rs398123482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079209 SCV000111079 likely pathogenic not provided 2012-08-02 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000767256 SCV000897803 uncertain significance Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Mendelics RCV000767256 SCV001136312 likely pathogenic Von Hippel-Lindau syndrome 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321574 SCV002610885 likely pathogenic Hereditary cancer-predisposing syndrome 2023-09-05 criteria provided, single submitter clinical testing The p.I109N variant (also known as c.326T>A), located in coding exon 1 of the VHL gene, results from a T to A substitution at nucleotide position 326. The isoleucine at codon 109 is replaced by asparagine, an amino acid with dissimilar properties. This alteration has been observed in several individuals with a personal and/or family history that is consistent with VHL-related disease (Ambry internal data). In addition, internal structural analysis indicates that this alteration is destabilizing to the protein (Ambry internal data). This amino acid position is not well conserved on species alignment. The in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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