ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) (rs774824164)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685036 SCV000812507 uncertain significance Neurofibromatosis, type 2 2020-09-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 540 of the NF2 protein (p.Asn540Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs774824164, ExAC 0.01%). 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 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.
Fulgent Genetics,Fulgent Genetics RCV000765630 SCV000896955 uncertain significance Meningioma, familial; Neurofibromatosis, type 2; Schwannomatosis 1 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012452 SCV001172904 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-03 criteria provided, single submitter clinical testing The p.N540S variant (also known as c.1619A>G), located in coding exon 15 of the NF2 gene, results from an A to G substitution at nucleotide position 1619. The asparagine at codon 540 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well 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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