ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1564dup (p.Thr522fs)

dbSNP: rs2066874810
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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 RCV001064493 SCV001229399 pathogenic Neurofibromatosis, type 1 2022-07-03 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: 858595). 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.Thr522Asnfs*36) 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 RCV003467825 SCV004198253 likely pathogenic Juvenile myelomonocytic leukemia 2023-10-17 criteria provided, single submitter clinical testing

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