ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter)

dbSNP: rs1597851420
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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 RCV001943811 SCV002196224 pathogenic Neurofibromatosis, type 1 2022-03-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 18546366, 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn2366*) 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).
Baylor Genetics RCV004571622 SCV005052282 pathogenic Juvenile myelomonocytic leukemia 2023-12-29 criteria provided, single submitter clinical testing

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