Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020335 | SCV001181800 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-03 | criteria provided, single submitter | clinical testing | The c.345_347delACA variant (also known as p.Q115del) is located in coding exon 3 of the NF2 gene. This variant results from an in-frame ACA deletion at nucleotide positions 345 to 347. This results in the in-frame deletion of a glutamine at codon 115. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001308325 | SCV001497770 | uncertain significance | Neurofibromatosis, type 2 | 2023-02-01 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 823788). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.345_347del, results in the deletion of 1 amino acid(s) of the NF2 protein (p.Gln115del), but otherwise preserves the integrity of the reading frame. |
Gene |
RCV003236856 | SCV003935382 | uncertain significance | not provided | 2022-12-25 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 11756419, 16324214) |