Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000512807 | SCV000609150 | uncertain significance | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000550100 | SCV000654614 | uncertain significance | Charcot-Marie-Tooth disease type 2R | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 338 of the TRIM2 protein (p.Thr338Ser). This variant is present in population databases (rs146686472, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TRIM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 444644). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
ARUP Laboratories, |
RCV000512807 | SCV000884722 | uncertain significance | not provided | 2018-01-22 | criteria provided, single submitter | clinical testing | The TRIM2 c.1013C>G; p.Thr338Ser variant (rs146686472), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with a non-Finnish European population frequency of 0.04% (identified on 45 out of 126,416 chromosomes) and is classified as a variant of unknown significance in ClinVar (ID: 444644). The threonine at position 338 is moderately conserved, considering 12 species, and computational analyses of the effects of the p.Thr338Ser variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Thr338Ser variant cannot be determined with certainty. |
Ambry Genetics | RCV002524966 | SCV003686133 | uncertain significance | Inborn genetic diseases | 2022-03-29 | criteria provided, single submitter | clinical testing | The c.1094C>G (p.T365S) alteration is located in exon 6 (coding exon 6) of the TRIM2 gene. This alteration results from a C to G substitution at nucleotide position 1094, causing the threonine (T) at amino acid position 365 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |