ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.233_254dup (p.Thr86fs) (rs1553408413)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657329 SCV000779060 pathogenic not provided 2017-11-30 criteria provided, single submitter clinical testing This duplication of 22 nucleotides in MSH6 is denoted c.233_254dup22 at the cDNA level and p.Thr86IlefsX11 (T86IfsX11) at the protein level. The surrounding sequence is CGGA[dup22]CACC. The duplication causes a frameshift which changes a Threonine to an Isoleucine at codon 86, and creates a premature stop codon at position 11 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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