Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470605 | SCV000543821 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 340 of the RET protein (p.Val340Phe). This variant is present in population databases (rs367737920, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 405542). 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 tolerated. 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. |
Counsyl | RCV000662822 | SCV000785665 | uncertain significance | Multiple endocrine neoplasia, type 2a | 2017-10-24 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256246 | SCV002529906 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-10 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256246 | SCV002657646 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-24 | criteria provided, single submitter | clinical testing | The p.V340F variant (also known as c.1018G>T), located in coding exon 5 of the RET gene, results from a G to T substitution at nucleotide position 1018. The valine at codon 340 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Myriad Genetics, |
RCV000662822 | SCV004018051 | uncertain significance | Multiple endocrine neoplasia, type 2a | 2023-04-17 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
Gene |
RCV003327399 | SCV004034611 | uncertain significance | not provided | 2023-03-06 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 14633923) |