ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1798C>T (p.Arg600Ter)

gnomAD frequency: 0.00001  dbSNP: rs927878214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919101 SCV002177536 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2024-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg600*) in the MLH3 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MLH3 cause disease. This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 1412459). 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.
Ambry Genetics RCV004043368 SCV002717262 uncertain significance not specified 2024-10-04 criteria provided, single submitter clinical testing The p.R600* variant (also known as c.1798C>T), located in coding exon 1 of the MLH3 gene, results from a C to T substitution at nucleotide position 1798. This changes the amino acid from an arginine to a stop codon within coding exon 1. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006216 SCV005635791 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-05-23 criteria provided, single submitter clinical testing

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