ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7330dup (p.Thr2444fs)

dbSNP: rs1064794278
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486904 SCV000568615 pathogenic not provided 2023-09-18 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 10543400, 23906300, 22155606, 24789688, 31776437)
Labcorp Genetics (formerly Invitae), Labcorp RCV000539017 SCV000628768 pathogenic Neurofibromatosis, type 1 2024-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr2423Asnfs*4) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 22155606, 24789688). ClinVar contains an entry for this variant (Variation ID: 420081). For these reasons, this variant has been classified as Pathogenic.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000539017 SCV000782104 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000539017 SCV002560569 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470554 SCV004198996 pathogenic Juvenile myelomonocytic leukemia 2022-02-22 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000539017 SCV000692367 pathogenic Neurofibromatosis, type 1 2014-03-05 no assertion criteria provided clinical testing

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