ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2269T>A (p.Ter757Lys)

dbSNP: rs587778995
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075594 SCV000106592 uncertain significance Lynch syndrome 2019-06-21 reviewed by expert panel curation Insufficient evidence: elongates protein by 36 amino acids
Ambry Genetics RCV002444530 SCV002734001 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-17 criteria provided, single submitter clinical testing The c.2269T>A variant (also known as p.*757KEXT*36), located in coding exon 19 of the MLH1 gene, results from a T to A substitution at nucleotide position 2269, which is the last nucleotide of the MLH1 gene. The stop codon at position 757 is replaced by Lysine, resulting in an elongation of the protein by 36 amino acids. The exact functional impact of these inserted amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.