ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.702_708del (p.Tyr235fs)

dbSNP: rs2066139158
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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 RCV001224125 SCV001396306 pathogenic Neurofibromatosis, type 1 2019-07-31 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 not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr235Serfs*44) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV004570543 SCV005052294 likely pathogenic Juvenile myelomonocytic leukemia 2023-12-21 criteria provided, single submitter clinical testing

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