ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2410-12T>C

dbSNP: rs876657932
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213889 SCV000272219 uncertain significance not specified 2019-01-04 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Labcorp Genetics (formerly Invitae), Labcorp RCV001505732 SCV001710640 likely benign Neurofibromatosis, type 1 2024-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000866659 SCV002012640 uncertain significance not provided 2021-07-30 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in an individual with suspected Noonan spectrum disorder in published literature (Witkowski et al., 2020); Not observed at significant frequency in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 32107864)
PreventionGenetics, part of Exact Sciences RCV004547522 SCV004111523 uncertain significance NF1-related disorder 2023-04-17 criteria provided, single submitter clinical testing The NF1 c.2410-12T>C variant is predicted to interfere with splicing. This variant was reported as a variant of uncertain significance in an individual with a suspected RASopathy diagnosis (Table S2 - Witkowski et al. 2020. PubMed ID: 32107864). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. In ClinVar this variant has conflicting interpretations of pathogenicity of likely benign and uncertain (https://ncbi.nlm.nih.gov/clinvar/variation/229062/). However, the use of computer prediction programs is not equivalent to functional evidence, and therefore the clinical significance of this variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV005016573 SCV005646715 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-05-22 criteria provided, single submitter clinical testing

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