ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.592C>T (p.Arg198Ter) (rs1555993345)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533078 SCV000628876 pathogenic Neurofibromatosis, type 2 2018-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg198*) 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 observed in several individuals affected with, or suspected of, neurofibromatosis type 2 (PMID: 7711726, 18033041, 18670066, 24815379, 26066488, Invitae). ClinVar contains an entry for this variant (Variation ID: 457922). 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 RCV000533078 SCV000782125 pathogenic Neurofibromatosis, type 2 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712410 SCV000842900 pathogenic not provided 2018-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000712410 SCV001788027 pathogenic not provided 2020-12-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 24815379, 19148485, 11275983, 10771486, 18554169, 21294614, 7711726, 26066488, 25525159, 18670066)

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