ClinVar Miner

Submissions for variant NM_000268.3(NF2):c.1021C>T (p.Arg341Ter) (rs74315499)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000003453 SCV000782126 pathogenic Neurofibromatosis, type 2 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000497720 SCV000589606 pathogenic not provided 2017-06-19 criteria provided, single submitter clinical testing The R341X nonsense variant has been reported previously in association with neurofibromatosis type 1, including an apparently de novo occurrence (Evans et al., 1998; Walter et al., 2009; Vivier et al., 2009). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be pathogenic.
Invitae RCV000003453 SCV000553677 pathogenic Neurofibromatosis, type 2 2016-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 341 (p.Arg341*) of the NF2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF2 are known to be pathogenic. This particular variant has been reported in individuals affected with neurofibromatosis type 2 (PMID: 8379998, 12566519, 21671232, 11809806, 7913580). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003453 SCV000023611 pathogenic Neurofibromatosis, type 2 1994-08-01 no assertion criteria provided literature only

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