ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2174_2177dup (p.His729fs)

dbSNP: rs2151425977
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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 RCV001384205 SCV001583593 pathogenic Neurofibromatosis, type 1 2020-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His729Serfs*3) in the NF1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency).

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