ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter)

dbSNP: rs1597712392
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009579 SCV001169680 pathogenic Neurofibromatosis, type 1; Tibial pseudarthrosis 2018-11-10 criteria provided, single submitter research
Invitae RCV001223770 SCV001395932 pathogenic Neurofibromatosis, type 1 2023-09-05 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: 818186). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type I (PMID: 9452037). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln682*) 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).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001223770 SCV001479148 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001223770 SCV002561728 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898031 SCV004714724 pathogenic NF1-related condition 2024-01-11 criteria provided, single submitter clinical testing The NF1 c.2044C>T variant is predicted to result in premature protein termination (p.Gln682*). This variant was reported in individuals with neurofibromatosis type 1 (see for example - Zhu et al. 2019. PubMed ID: 31533797; Table S3, Kang et al. 2019. PubMed ID: 31776437). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in NF1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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