ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1445C>T (p.Pro482Leu)

gnomAD frequency: 0.00001  dbSNP: rs766339217
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632635 SCV000753820 likely benign Neurofibromatosis, type 2 2024-12-27 criteria provided, single submitter clinical testing
Mendelics RCV000632635 SCV000839524 uncertain significance Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000632635 SCV002044890 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388018 SCV002697911 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-06 criteria provided, single submitter clinical testing The p.P482L variant (also known as c.1445C>T), located in coding exon 13 of the NF2 gene, results from a C to T substitution at nucleotide position 1445. The proline at codon 482 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
All of Us Research Program, National Institutes of Health RCV000632635 SCV005431304 uncertain significance Neurofibromatosis, type 2 2024-07-29 criteria provided, single submitter clinical testing This missense variant replaces proline with leucine at codon 482 of the NF2 protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with NF2-related disorders in the literature. This variant has been identified in 2/167120 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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