ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6227A>G (p.Asp2076Gly)

dbSNP: rs1597842820
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813506 SCV000953868 uncertain significance Neurofibromatosis, type 1 2020-01-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 2055 of the NF1 protein (p.Asp2055Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related disease. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genetic Services Laboratory, University of Chicago RCV001816887 SCV002071337 uncertain significance not specified 2019-11-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000813506 SCV002560943 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352422 SCV002654520 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-01-28 criteria provided, single submitter clinical testing The p.D2055G variant (also known as c.6164A>G), located in coding exon 41 of the NF1 gene, results from an A to G substitution at nucleotide position 6164. The aspartic acid at codon 2055 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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