ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3888T>G (p.Tyr1296Ter)

dbSNP: rs2151438526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389465 SCV001590852 pathogenic Neurofibromatosis, type 1 2022-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1296*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 23913538). ClinVar contains an entry for this variant (Variation ID: 1075772). RNA analysis provides insufficient evidence to determine the effect of this variant on NF1 splicing (Invitae). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV002511085 SCV002822382 pathogenic not provided 2022-10-01 criteria provided, single submitter clinical testing NF1: PVS1, PM2, PP4, PS4:Supporting

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