ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.352T>G (p.Phe118Val)

dbSNP: rs2065733287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065649 SCV001230618 uncertain significance Neurofibromatosis, type 2 2020-02-26 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with valine at codon 118 of the NF2 protein (p.Phe118Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine.
Ambry Genetics RCV002451281 SCV002613457 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-12 criteria provided, single submitter clinical testing The p.F118V variant (also known as c.352T>G), located in coding exon 3 of the NF2 gene, results from a T to G substitution at nucleotide position 352. The phenylalanine at codon 118 is replaced by valine, an amino acid with highly similar 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.

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