ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8515G>A (p.Val2839Met)

gnomAD frequency: 0.00001  dbSNP: rs368149035
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129511 SCV000184285 likely benign Hereditary cancer-predisposing syndrome 2015-11-13 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Labcorp Genetics (formerly Invitae), Labcorp RCV000467516 SCV000542149 benign Neurofibromatosis, type 1 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001582594 SCV001812837 uncertain significance not provided 2021-11-02 criteria provided, single submitter clinical testing Observed in individuals with sarcoma (Ballinger 2016); Reported in healthy controls, but not in any cases from a breast cancer study (Momozawa 2018); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as p.Val2839Met; This variant is associated with the following publications: (PMID: 24728327, 23656349, 30287823, 27498913)
Sema4, Sema4 RCV000129511 SCV002528157 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-03 criteria provided, single submitter curation
Ambry Genetics RCV002444579 SCV002678408 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-06-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000467516 SCV004031237 uncertain significance Neurofibromatosis, type 1 2023-07-25 criteria provided, single submitter clinical testing The NF1 c.8452G>A (p.Val2818Met) missense change has a maximum subpopulation frequency of 0.0065% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. This variant has been reported in a large case-control study of breast cancer in 8 of 60,466 cases and 9 of 53,461 controls (PMID: 33471991). To our knowledge, this variant has not been reported in individuals with Neurofibromatosis type 1. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
ITMI RCV000121641 SCV000085839 not provided not specified 2013-09-19 no assertion provided reference population

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