ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3431_3432dup (p.Thr1145fs)

dbSNP: rs1555614966
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632516 SCV000753701 pathogenic Neurofibromatosis, type 1 2017-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1145Valfs*14) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic. This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333).

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