ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.770C>G (p.Pro257Arg) (rs753300935)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571634 SCV000674155 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-23 criteria provided, single submitter clinical testing The p.P257R variant (also known as c.770C>G), located in coding exon 8 of the NF2 gene, results from a C to G substitution at nucleotide position 770. The proline at codon 257 is replaced by arginine, an amino acid with dissimilar properties. 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.
Invitae RCV001322314 SCV001513180 uncertain significance Neurofibromatosis, type 2 2020-08-20 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 257 of the NF2 protein (p.Pro257Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 485989). 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: Possibly 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.

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