ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.702_703insT (p.Thr235fs) (rs730881826)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160742 SCV000211381 pathogenic not provided 2016-07-05 criteria provided, single submitter clinical testing This insertion of one nucleotide in MSH6 is denoted c.702_703insT at the cDNA level and p.Thr235TyrfsX5 (T235YfsX5) at the protein level. The normal sequence, with the base that is inserted in braces, is TAAG[T]ACAC. The insertion causes a frameshift which changes a Threonine to a Tyrosine at codon 235, and creates a premature stop codon at position 5 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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