ClinVar Miner

Submissions for variant NM_001167617.2(MLH1):c.-116_-115delinsT (rs876660860)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215802 SCV000278628 pathogenic Hereditary cancer-predisposing syndrome 2015-09-16 criteria provided, single submitter clinical testing The c.174_175delGAinsT pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from the deletion of two nucleotides and insertion of one nucleotide at positions 174 to 175 causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586133 SCV000696124 likely pathogenic Lynch syndrome 2017-03-20 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.174_175delinsT (p.Leu58Phefs) variant results in a premature termination codon, predicted to cause a truncated or absent MLH1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.178C>T, p.Gln60X; c.298C>T, p.Arg100X; c.184_194del, p.Gln62Hisfs). This variant is absent from 121356 control chromosomes (ExAC dataset). In addition, one clinical diagnostic laboratory classified this variant as pathogenic. Taken together, this variant is classified as Likely Pathogenic.

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