ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3836_3849dup (p.Thr1284fs) (rs1553333377)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657316 SCV000779047 pathogenic not provided 2019-01-14 criteria provided, single submitter clinical testing This duplication of 14 nucleotides in MSH6 is denoted c.3836_3849dup14 at the cDNA level and p.Thr1284AlafsX48 (T1284AfsX48) at the protein level. The surrounding sequence is CCCA[dup14]ACGT. The duplication causes a frameshift which changes a Threonine to an Alanine at codon 1284, and creates a premature stop codon at position 48 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 protein truncation. The disrupted region at the end of the gene is located within the binding site of MSH2 in the ATPase domain (Kariola 2002, Warren 2007, Kansikas 2011). We consider this variant to be pathogenic.

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