Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117563 | SCV000151781 | likely benign | not specified | 2013-08-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000724320 | SCV000231107 | uncertain significance | not provided | 2014-11-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000724320 | SCV003001980 | uncertain significance | not provided | 2022-06-06 | 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). ClinVar contains an entry for this variant (Variation ID: 129555). This variant has not been reported in the literature in individuals affected with MAGI2-related conditions. This variant is present in population databases (rs587780389, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 293 of the MAGI2 protein (p.Thr293Ile). |
Ambry Genetics | RCV002528219 | SCV003641850 | uncertain significance | Inborn genetic diseases | 2022-08-26 | criteria provided, single submitter | clinical testing | The c.878C>T (p.T293I) alteration is located in exon 5 (coding exon 5) of the MAGI2 gene. This alteration results from a C to T substitution at nucleotide position 878, causing the threonine (T) at amino acid position 293 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |