ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)

gnomAD frequency: 0.00001  dbSNP: rs147542208
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784646 SCV002017490 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418578 SCV002727779 pathogenic Hereditary cancer-predisposing syndrome 2021-04-15 criteria provided, single submitter clinical testing The p.E694* pathogenic mutation (also known as c.2080G>T), located in coding exon 18 of the MLH1 gene, results from a G to T substitution at nucleotide position 2080. This changes the amino acid from a glutamic acid to a stop codon within coding exon 18. This alteration was seen in patients with early onset colorectal cancer that showed loss of MLH1 and PMS2 on IHC (Jiang W et al. Int J Cancer, 2019 05;144:2161-2168; Kang SY et al. Int. J. Cancer, 2015 Apr;136:1568-78)). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
CeGaT Center for Human Genetics Tuebingen RCV001784646 SCV004011456 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing MLH1: PVS1, PM2
Myriad Genetics, Inc. RCV003455442 SCV004186508 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Ding PR Lab, Sun Yat-sen University Cancer Center RCV001093683 SCV001250864 likely pathogenic Lynch syndrome 1 no assertion criteria provided clinical testing
Laboratory for Genotyping Development, RIKEN RCV003160614 SCV002758112 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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