Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000822186 | SCV000962977 | uncertain significance | Colorectal cancer, hereditary nonpolyposis, type 7 | 2024-06-10 | criteria provided, single submitter | clinical testing | This variant, c.738_740del, results in the deletion of 1 amino acid(s) of the MLH3 protein (p.Asn246del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774010757, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with MLH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 664155). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Center for Genomic Medicine, |
RCV002268316 | SCV002551450 | uncertain significance | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002268316 | SCV002675049 | uncertain significance | not specified | 2024-12-04 | criteria provided, single submitter | clinical testing | The c.738_740delCAA variant (also known as p.N246del) is located in coding exon 1 of the MLH3 gene. This variant results from an in-frame CAA deletion at nucleotide positions 738 to 740. This results in the in-frame deletion of an asparagine at codon 246. This amino acid position is well 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). The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
Fulgent Genetics, |
RCV005004451 | SCV005633324 | uncertain significance | Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer | 2024-06-20 | criteria provided, single submitter | clinical testing |