ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.606_607insTT (p.Asp203fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002358319 SCV002657687 pathogenic Hereditary cancer-predisposing syndrome 2020-10-16 criteria provided, single submitter clinical testing The c.606_607insTT pathogenic mutation, located in coding exon 8 of the MLH1 gene, results from an insertion of two nucleotides at position 606, causing a translational frameshift with a predicted alternate stop codon (p.D203Lfs*27). 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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