ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1441del (p.Met481fs)

dbSNP: rs878853777
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229125 SCV000284020 pathogenic Lynch syndrome 2015-12-19 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 13 of the MLH1 mRNA (c.1441delA), causing a frameshift at codon 481. This creates a premature translational stop signal (p.Met481Trpfs*10) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001390761 SCV001592596 pathogenic Hereditary nonpolyposis colorectal neoplasms 2015-12-19 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, truncating variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 13 of the MLH1 mRNA (c.1441delA), causing a frameshift at codon 481. This creates a premature translational stop signal (p.Met481Trpfs*10) and is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002390600 SCV002697870 pathogenic Hereditary cancer-predisposing syndrome 2022-08-15 criteria provided, single submitter clinical testing The c.1441delA pathogenic mutation, located in coding exon 13 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 1441, causing a translational frameshift with a predicted alternate stop codon (p.M481Wfs*10). 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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