ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1721_1722del (p.Leu574fs)

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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 RCV002399059 SCV002714183 pathogenic Hereditary cancer-predisposing syndrome 2022-02-22 criteria provided, single submitter clinical testing The c.1721_1722delTC pathogenic mutation, located in coding exon 15 of the MLH1 gene, results from a deletion of two nucleotides at nucleotide positions 1721 to 1722, causing a translational frameshift with a predicted alternate stop codon (p.L574Qfs*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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