ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)

dbSNP: rs2067137147
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227859 SCV001400237 uncertain significance Neurofibromatosis, type 1 2019-08-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with aspartic acid at codon 1146 of the NF1 protein (p.Val1146Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid.
GeneDx RCV001776154 SCV002012786 likely pathogenic not provided 2023-09-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: Martorana2022[CaseReport], 22807134, 2121369, 25486365)
Genome-Nilou Lab RCV001227859 SCV002560296 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV001227859 SCV002567775 likely pathogenic Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing

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