ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.449del (p.Phe150fs)

dbSNP: rs1567817974
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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 RCV000696241 SCV000824793 pathogenic Neurofibromatosis, type 1 2021-12-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 574327). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe150Serfs*15) 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 RCV003460946 SCV004198319 likely pathogenic Juvenile myelomonocytic leukemia 2023-09-08 criteria provided, single submitter clinical testing

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