ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3841_3847dup (p.Ile1283fs) (rs1114167720)

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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 RCV000491794 SCV000580172 pathogenic Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Integrated Genetics/Laboratory Corporation of America RCV000588272 SCV000695893 likely pathogenic Lynch syndrome 2017-04-06 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.3841_3847dupGAGACTA (p.Ile1283Argfs) variant results in a premature termination codon, predicted to cause a truncated or absent MSH6 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.3938_3941dupTTCA, p.Gln1314fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 120852 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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