ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.156dup (p.Glu53fs)

dbSNP: rs63750028
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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) RCV000075268 SCV000106262 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000629762 SCV000750718 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-02-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu53Argfs*26) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 12658575). This variant is also known as 52insA. ClinVar contains an entry for this variant (Variation ID: 89794). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002399436 SCV002708450 pathogenic Hereditary cancer-predisposing syndrome 2015-02-09 criteria provided, single submitter clinical testing The c.156dupA pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a duplication of A at position 156, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003451036 SCV004190037 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.

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