ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1193T>C (p.Leu398Pro)

dbSNP: rs2147082680
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002071030 SCV002320850 likely pathogenic Neurofibromatosis, type 2 2022-01-01 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002071030 SCV002556808 pathogenic Neurofibromatosis, type 2 2021-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044907 SCV005034264 pathogenic Hereditary cancer-predisposing syndrome 2023-10-11 criteria provided, single submitter clinical testing The p.L398P pathogenic mutation (also known as c.1193T>C), located in coding exon 12 of the NF2 gene, results from a T to C substitution at nucleotide position 1193. The leucine at codon 398 is replaced by proline, an amino acid with similar properties. This mutation was detected in multiple unrelated individuals with clinical features of NF2-related schwannomatosis and co-segregated with disease in a large family (Heineman TE et al. Otol Neurotol, 2015 Jun;36:908-14; external communications). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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