ClinVar Miner

Submissions for variant NM_001281492.1(MSH6):c.1429dup (p.Thr477fs) (rs587779221)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074688 SCV000107891 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
GeneDx RCV000482414 SCV000566298 pathogenic not provided 2015-04-17 criteria provided, single submitter clinical testing This duplication of one nucleotide in MSH6 is denoted c.1819dupA at the cDNA level and p.Thr607AsnfsX33 (T607NfsX33) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TAAA[A]CAAT. The duplication causes a frameshift, which changes a Threonine to an Asparagine at codon 607, and creates a premature stop codon at position 33 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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