ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5938del (p.Thr1980fs)

dbSNP: rs1567615852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756432 SCV000884250 pathogenic not provided 2018-02-05 criteria provided, single submitter clinical testing The NF1 c.5938delA; p.Thr1980fs (NM_000267.3: c.5875delA; p.Thr1959fs) variant, to our knowledge, is not reported in the medical literature or in gene-specific databases. This variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on the above information, this variant is considered pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003598001 SCV004423834 pathogenic Neurofibromatosis, type 1 2023-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1959Glnfs*2) 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 variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 618250). For these reasons, this variant has been classified as Pathogenic.

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