ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp)

dbSNP: rs786202591
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551348 SCV000628677 uncertain significance Neurofibromatosis, type 1 2017-04-27 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an NF1-related disease. This sequence change replaces glutamic acid with aspartic acid at codon 1908 of the NF1 protein (p.Glu1908Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
CeGaT Center for Human Genetics Tuebingen RCV001726214 SCV001961675 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
GeneDx RCV001726214 SCV002013069 uncertain significance not provided 2019-11-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000551348 SCV002560911 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000551348 SCV002579494 likely pathogenic Neurofibromatosis, type 1 2022-02-25 criteria provided, single submitter clinical testing

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