ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.872G>A (p.Arg291His) (rs755200117)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689082 SCV000816720 uncertain significance Neurofibromatosis, type 2 2018-05-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 291 of the NF2 protein (p.Arg291His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with 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: "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 RCV001018243 SCV001179454 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-26 criteria provided, single submitter clinical testing The p.R291H variant (also known as c.872G>A), located in coding exon 9 of the NF2 gene, results from a G to A substitution at nucleotide position 872. The arginine at codon 291 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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