ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1445C>G (p.Pro482Arg)

gnomAD frequency: 0.00010  dbSNP: rs766339217
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571543 SCV000674158 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-19 criteria provided, single submitter clinical testing The p.P482R variant (also known as c.1445C>G), located in coding exon 13 of the NF2 gene, results from a C to G substitution at nucleotide position 1445. The proline at codon 482 is replaced by arginine, an amino acid with dissimilar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001048459 SCV001212466 likely benign Neurofibromatosis, type 2 2025-01-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001048459 SCV002044891 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001048459 SCV004821916 likely benign Neurofibromatosis, type 2 2023-08-14 criteria provided, single submitter clinical testing

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