Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001046713 | SCV001210627 | uncertain significance | Charcot-Marie-Tooth disease type 2R | 2022-06-27 | 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: 843982). This variant has not been reported in the literature in individuals affected with TRIM2-related conditions. This variant is present in population databases (rs775717184, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 198 of the TRIM2 protein (p.Ala198Ser). |
Mayo Clinic Laboratories, |
RCV001508517 | SCV001714729 | uncertain significance | not provided | 2019-08-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243425 | SCV003940366 | uncertain significance | Inborn genetic diseases | 2023-04-05 | criteria provided, single submitter | clinical testing | The c.673G>T (p.A225S) alteration is located in exon 5 (coding exon 5) of the TRIM2 gene. This alteration results from a G to T substitution at nucleotide position 673, causing the alanine (A) at amino acid position 225 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |