Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822796 | SCV000963613 | uncertain significance | Neurofibromatosis, type 2 | 2022-02-09 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 664660). 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 sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 565 of the NF2 protein (p.Asn565Tyr). |
Ambry Genetics | RCV002397729 | SCV002712734 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-13 | criteria provided, single submitter | clinical testing | The p.N565Y variant (also known as c.1693A>T), located in coding exon 15 of the NF2 gene, results from an A to T substitution at nucleotide position 1693. The asparagine at codon 565 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |