ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.515G>A (p.Arg172Lys)

gnomAD frequency: 0.00002  dbSNP: rs752963731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796421 SCV000935933 uncertain significance Neurofibromatosis, type 2 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 172 of the NF2 protein (p.Arg172Lys). This variant is present in population databases (rs752963731, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 642873). 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. 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 RCV002334485 SCV002645283 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-19 criteria provided, single submitter clinical testing The p.R172K variant (also known as c.515G>A), located in coding exon 5 of the NF2 gene, results from a G to A substitution at nucleotide position 515. The arginine at codon 172 is replaced by lysine, 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.
Fulgent Genetics, Fulgent Genetics RCV002477814 SCV002783177 uncertain significance Familial meningioma; Neurofibromatosis, type 2; Schwannomatosis 1 2022-01-04 criteria provided, single submitter clinical testing

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