ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1615C>G (p.Leu539Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463180 SCV004199056 uncertain significance Familial meningioma 2023-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004654231 SCV005143655 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-19 criteria provided, single submitter clinical testing The p.L539V variant (also known as c.1615C>G), located in coding exon 15 of the NF2 gene, results from a C to G substitution at nucleotide position 1615. The leucine at codon 539 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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