ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.461_462del (p.Val153_Phe154insTer)

dbSNP: rs2065795756
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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 RCV001202631 SCV001373752 pathogenic Neurofibromatosis, type 1 2020-11-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 30308447). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe154*) 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).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001202631 SCV001548406 pathogenic Neurofibromatosis, type 1 2019-01-01 no assertion criteria provided clinical testing

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