ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.4360T>C (p.Ter1454Arg)

gnomAD frequency: 0.00001  dbSNP: rs1216996898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215884 SCV001387652 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2022-10-30 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 945281). This variant has not been reported in the literature in individuals affected with MLH3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change disrupts the translational stop signal of the MLH3 mRNA. It is expected to extend the length of the MLH3 protein by 18 additional amino acid residues.
Ambry Genetics RCV004033981 SCV005037248 uncertain significance not specified 2023-12-20 criteria provided, single submitter clinical testing The c.4360T>C variant (also known as p.*1454Rext*18), located in coding exon 12 of the MLH3 gene, results from a T to C substitution at nucleotide position 4360, which is the last nucleotide of the MLH3 gene. The stop codon at position 1454 is replaced by arginine, resulting in an elongation of the protein by 18 amino acids. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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