ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2276del (p.Val759fs)

dbSNP: rs2067031123
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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 RCV001066194 SCV001231196 pathogenic Neurofibromatosis, type 1 2019-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val759Glyfs*5) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NF1-related conditions. 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 is not present in population databases (ExAC no frequency).

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