ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.887_890del (p.Ser295_Leu296insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003452256 SCV004186162 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005100138 SCV005754249 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-05-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu296*) 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 or colorectal cancer (PMID: 15996210, 28445943, 31350202). For these reasons, this variant has been classified as Pathogenic.

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