Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002400188 | SCV001180337 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-07-30 | criteria provided, single submitter | clinical testing | The c.922_923delGCinsTT variant (also known as p.A308F), located in coding exon 9 of the NF1 gene, results from an in-frame deletion of GC and insertion of TT at nucleotide positions 922 to 923. This results in the substitution of the alanine residue for a phenylalanine residue at codon 308, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001860936 | SCV002263385 | uncertain significance | Neurofibromatosis, type 1 | 2021-02-14 | 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 823104). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces alanine with phenylalanine at codon 308 of the NF1 protein (p.Ala308Phe). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and phenylalanine. |
Genome- |
RCV001860936 | SCV002561848 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |