ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter)

dbSNP: rs2069867490
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053552 SCV001217820 pathogenic Neurofibromatosis, type 1 2023-07-19 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: 849556). This variant is also known as 7113C>A (C2371*). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 25324867). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys2350*) 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).
GeneDx RCV002245845 SCV002513687 pathogenic not provided 2022-05-13 criteria provided, single submitter clinical testing 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; Not observed in large population cohorts (gnomAD); Also known as c.7113C>A, p.Cys2371Ter; This variant is associated with the following publications: (PMID: 10712197, 23913538, 25324867)
Genome-Nilou Lab RCV001053552 SCV002560235 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003413862 SCV004109160 pathogenic NF1-related condition 2023-01-23 criteria provided, single submitter clinical testing The NF1 c.7113C>A variant is predicted to result in premature protein termination (p.Cys2371*). This variant was reported in an individual with neurofibromatosis type 1 (Kim et al. 2014. PubMed ID: 25324867). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NF1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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