ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) (rs74315504)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003456 SCV000753832 pathogenic Neurofibromatosis, type 2 2017-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg466*) in the NF2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals with neurofibromatosis type 2 (PMID: 8012353, 12566519, 18033041, 18766994) including one individual where it was de novo (PMID: 7913580) and two individuals where it was mosaic (PMID: 26066488, 24815379).  ClinVar contains an entry for this variant (Variation ID: 3295). Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). For these reasons, this variant has been classified as Pathogenic.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000003456 SCV000782127 pathogenic Neurofibromatosis, type 2 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992438 SCV001144749 pathogenic not provided 2019-08-08 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. Damaging to protein function(s) relevant to disease mechanism.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000992438 SCV001905517 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
OMIM RCV000003456 SCV000023614 pathogenic Neurofibromatosis, type 2 1994-08-01 no assertion criteria provided literature only

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