ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.863C>G (p.Ser288Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001090178 SCV001190519 pathogenic Neurofibromatosis, type 2 2020-03-18 criteria provided, single submitter clinical testing A heterozygous nonsense variation in exon 9 of the NF2 gene that results in a stop codon and premature truncation of the protein at codon 288 was detected. The observed variant c.863C>G (p.Ser288Ter) has not been reported in the 1000 Genomes and ExAC databases. Loss of NF2 protein function is known to cause pathogenesis (McKusick , 1998). The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

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