ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.713C>T (p.Ala238Val)

gnomAD frequency: 0.00001  dbSNP: rs761195572
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701250 SCV000830041 uncertain significance Neurofibromatosis, type 2 2022-02-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 238 of the NF2 protein (p.Ala238Val). This variant is present in population databases (rs761195572, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 578288). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001026080 SCV001188391 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-17 criteria provided, single submitter clinical testing The p.A238V variant (also known as c.713C>T), located in coding exon 8 of the NF2 gene, results from a C to T substitution at nucleotide position 713. The alanine at codon 238 is replaced by valine, an amino acid with similar properties. This alteration has been reported in an individual with hepatocellular carcinoma (Yoo NJ et al. Pathology, 2012 Jan;44:29-32). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000701250 SCV002044859 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002305530 SCV002599550 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22081132, 11756419, 16324214)
Baylor Genetics RCV003460968 SCV004199069 uncertain significance Familial meningioma 2023-05-28 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.