ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.190_191del (p.Asn64fs)

dbSNP: rs63750469
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075420 SCV000106410 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002408586 SCV002718158 pathogenic Hereditary cancer-predisposing syndrome 2020-08-17 criteria provided, single submitter clinical testing The c.190_191delAA pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a deletion of two nucleotides at nucleotide positions 190 to 191, causing a translational frameshift with a predicted alternate stop codon (p.N64Wfs*14). This alteration was identified in a cohort of Belgian patients suspected to have Lynch syndrome (Spaepen M et al. Fam. Cancer. 2006;5:179-89). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003451081 SCV004186352 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-11 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003451081 SCV004190666 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-27 criteria provided, single submitter clinical testing

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