ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2077del (p.Glu693fs)

dbSNP: rs1575632215
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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 RCV001014344 SCV001175041 pathogenic Hereditary cancer-predisposing syndrome 2019-05-15 criteria provided, single submitter clinical testing The c.2077delG pathogenic mutation, located in coding exon 18 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 2077, causing a translational frameshift with a predicted alternate stop codon (p.E693Rfs*90). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

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