ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5521dup (p.Gln1841fs)

dbSNP: rs2069383586
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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 RCV001044599 SCV001208404 pathogenic Neurofibromatosis, type 1 2019-10-14 criteria provided, single submitter clinical testing 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 been observed in individuals affected with neurofibromatosis type 1 (PMID: 21362601). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1820Profs*21) in the NF1 gene. It is expected to result in an absent or disrupted protein product.

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