ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.263A>G (p.Lys88Arg)

dbSNP: rs547255779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214722 SCV001386421 uncertain significance Neurofibromatosis, type 2 2019-07-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs547255779, ExAC 0.01%). This sequence change replaces lysine with arginine at codon 88 of the NF2 protein (p.Lys88Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant has not been reported in the literature in individuals with NF2-related conditions. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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").
Ambry Genetics RCV002429914 SCV002742641 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-16 criteria provided, single submitter clinical testing The p.K88R variant (also known as c.263A>G), located in coding exon 3 of the NF2 gene, results from an A to G substitution at nucleotide position 263. The lysine at codon 88 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well 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.
Baylor Genetics RCV003469365 SCV004199051 uncertain significance Familial meningioma 2023-08-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001214722 SCV004838902 uncertain significance Neurofibromatosis, type 2 2024-01-11 criteria provided, single submitter clinical testing

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