ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.588dup (p.Gln197fs)

dbSNP: rs63751653
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248577 SCV001422075 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-06-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 972525). This variant is also known as c.643_648dupA. This premature translational stop signal has been observed in individual(s) with colorectal cancer (PMID: 21286823). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln197Thrfs*7) 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).
Ambry Genetics RCV002357055 SCV002653596 pathogenic Hereditary cancer-predisposing syndrome 2022-02-15 criteria provided, single submitter clinical testing The c.588dupA pathogenic mutation, located in coding exon 7 of the MLH1 gene, results from a duplication of A at nucleotide position 588, causing a translational frameshift with a predicted alternate stop codon (p.Q197Tfs*7). 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. RCV003449802 SCV004186531 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-17 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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