ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.302A>T (p.Tyr101Phe) (rs1240469044)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536025 SCV000628868 uncertain significance Neurofibromatosis, type 2 2017-05-11 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with phenylalanine at codon 101 of the NF2 protein (p.Tyr101Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NF2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001018182 SCV001179381 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing The p.Y101F variant (also known as c.302A>T), located in coding exon 3 of the NF2 gene, results from an A to T substitution at nucleotide position 302. The tyrosine at codon 101 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly 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.

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