ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7682C>G (p.Ser2561Ter)

dbSNP: rs2070274228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387788 SCV001588505 pathogenic Neurofibromatosis, type 1 2023-01-21 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: 1074475). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 26740943). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser2540*) 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).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738059 SCV004564284 pathogenic not provided 2022-12-29 criteria provided, single submitter clinical testing The NF1 c.7682C>G; p.Ser2561Ter variant (also known as NM_000267.3: c.7619C>G p.Ser2540Ter) is reported in the literature in an individual with neurofibromatosis type 1 (Bianchessi 2015). This variant is also reported in ClinVar (Variation ID: 1074475). It is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Bianchessi D et al. 126 novel mutations in Italian patients with neurofibromatosis type 1. Mol Genet Genomic Med. 2015 Jul 7;3(6):513-25. PMID: 26740943.
GeneDx RCV003738059 SCV005325961 pathogenic not provided 2024-01-05 criteria provided, single submitter clinical testing Identified in patients with features of NF1 referred for genetic testing at GeneDx and in published literature (PMID: 26740943, 31766501); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense 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; This variant is associated with the following publications: (PMID: 26740943, 36625737, 31766501)

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