ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.182T>C (p.Phe61Ser)

gnomAD frequency: 0.00001  dbSNP: rs1286915234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298580 SCV001487641 uncertain significance Neurofibromatosis, type 2 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 61 of the NF2 protein (p.Phe61Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1002192). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NF2 protein function with a positive predictive value of 80%. 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 RCV002411950 SCV002714645 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-07 criteria provided, single submitter clinical testing The p.F61S variant (also known as c.182T>C), located in coding exon 2 of the NF2 gene, results from a T to C substitution at nucleotide position 182. The phenylalanine at codon 61 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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.
GeneDx RCV002464444 SCV002759150 uncertain significance not provided 2022-06-03 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: 11756419, 16324214)

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