ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4702A>T (p.Lys1568Ter)

dbSNP: rs2151466498
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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 RCV001958984 SCV002240269 pathogenic Neurofibromatosis, type 1 2021-05-28 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: 25074460, 28422438). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1547*) 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).

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