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 Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Integrated Genetics/Laboratory Corporation of America 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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