ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1000A>G (p.Met334Val)

dbSNP: rs1556000094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544876 SCV000628840 uncertain significance Neurofibromatosis, type 2 2020-07-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NF2-related disease. In summary, this variant is a novel missense change with uncertain impact on protein function. 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 alter RNA splicing, 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. This sequence change replaces methionine with valine at codon 334 of the NF2 protein (p.Met334Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine.
Ambry Genetics RCV002358458 SCV002620558 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-19 criteria provided, single submitter clinical testing The p.M334V variant (also known as c.1000A>G) is located in coding exon 11 of the NF2 gene. The methionine at codon 334 is replaced by valine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 11. This amino acid position is conserved. 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.
Baylor Genetics RCV003459195 SCV004199057 uncertain significance Familial meningioma 2023-07-25 criteria provided, single submitter clinical testing

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