ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1219C>T (p.Gln407Ter)

dbSNP: rs74315501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003454 SCV003444532 pathogenic Neurofibromatosis, type 2 2022-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 3293). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 2 (PMID: 7913580). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln407*) 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).
OMIM RCV000003454 SCV000023612 pathogenic Neurofibromatosis, type 2 1994-08-01 no assertion criteria provided literature only

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