ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.735CAA[1] (p.Asn246del)

dbSNP: rs774010757
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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, Rigshospitalet, Copenhagen University Hospital 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, 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

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