ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1601del (p.Val534fs)

dbSNP: rs1559575143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759808 SCV000889385 pathogenic not provided 2018-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012378 SCV001172818 pathogenic Hereditary cancer-predisposing syndrome 2019-06-05 criteria provided, single submitter clinical testing The c.1601delT pathogenic mutation, located in coding exon 14 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 1601, causing a translational frameshift with a predicted alternate stop codon (p.V534Gfs*57). 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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