ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2009dup (p.Glu671fs)

dbSNP: rs63750740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808710 SCV000948825 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-08-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). This variant has not been reported in the literature in individuals with MLH1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu671Glyfs*4) in the MLH1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002422776 SCV002724283 pathogenic Hereditary cancer-predisposing syndrome 2022-08-24 criteria provided, single submitter clinical testing The c.2009dupA pathogenic mutation, located in coding exon 18 of the MLH1 gene, results from a duplication of A at nucleotide position 2009, causing a translational frameshift with a predicted alternate stop codon (p.E671Gfs*4). 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.

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