ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)

gnomAD frequency: 0.00002  dbSNP: rs934837854
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543184 SCV000628817 likely benign Neurofibromatosis, type 1 2023-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316525 SCV000670539 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-12-09 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.
PreventionGenetics, part of Exact Sciences RCV000679419 SCV000806328 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000543184 SCV002526085 uncertain significance Neurofibromatosis, type 1 2021-12-21 criteria provided, single submitter clinical testing The NF1 c.8393G>A (p.Ser2798Asn) missense change has a maximum subpopulation frequency of 0.011% in gnomAD v2.1.1 (PM2_supporitng; https://gnomad.broadinstitute.org/variant/17-29701109-G-A). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. This variant occurs in a gene where missense variants are more likely to be damaging based on methods described by Lek et al. (PP2; PMID: 27535533). To our knowledge, this variant has not been reported in individuals with Neurofibromatosis type 1. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting, PP2.
Genome-Nilou Lab RCV000543184 SCV002561524 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483373 SCV002787525 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-01-27 criteria provided, single submitter clinical testing

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