ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1288G>T (p.Val430Leu)

dbSNP: rs1361867592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551522 SCV000628846 uncertain significance Neurofibromatosis, type 2 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 430 of the NF2 protein (p.Val430Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NF2-related conditions. 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. 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 RCV003159756 SCV003858348 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-26 criteria provided, single submitter clinical testing The p.V430L variant (also known as c.1288G>T), located in coding exon 12 of the NF2 gene, results from a G to T substitution at nucleotide position 1288. The valine at codon 430 is replaced by leucine, an amino acid with highly similar properties. 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.

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