ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.560_561del (p.Arg187fs)

dbSNP: rs1555993301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660133 SCV000782124 likely pathogenic Neurofibromatosis, type 2 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660133 SCV005759635 pathogenic Neurofibromatosis, type 2 2024-06-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg187Asnfs*15) in 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 (PMID: 9643284, 16983642). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 547706). For these reasons, this variant has been classified as Pathogenic.

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