Submissions for variant NM_000249.4(MLH1):c.1348dup (p.Asp450fs)

dbSNP: rs587778906

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000075177	SCV000106168	pathogenic	Lynch syndrome	2013-09-05	reviewed by expert panel	research	Coding sequence variation resulting in a stop codon
Ambry Genetics	RCV002381378	SCV002689911	pathogenic	Hereditary cancer-predisposing syndrome	2021-03-30	criteria provided, single submitter	clinical testing	The c.1348dupG pathogenic mutation, located in coding exon 12 of the MLH1 gene, results from a duplication of G at nucleotide position 1348, causing a translational frameshift with a predicted alternate stop codon (p.D450Gfs*29). 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.
Revvity Omics, Revvity	RCV003144123	SCV003832585	likely pathogenic	not provided	2023-03-03	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003451017	SCV004190015	pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2	2023-07-20	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.