ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.50A>G (p.Lys17Arg)

dbSNP: rs2064714998
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365277 SCV001561542 uncertain significance Neurofibromatosis, type 2 2023-04-28 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1056444). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 17 of the NF2 protein (p.Lys17Arg).
Ambry Genetics RCV002341773 SCV002642465 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-29 criteria provided, single submitter clinical testing The p.K17R variant (also known as c.50A>G), located in coding exon 1 of the NF2 gene, results from an A to G substitution at nucleotide position 50. The lysine at codon 17 is replaced by arginine, 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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