ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1198_1219delinsTCATC (p.Glu400fs) (rs1064795790)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485806 SCV000571935 pathogenic not provided 2016-10-04 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted MSH6 c.1198_1219del22insTCATC at the cDNA level and p.Glu400SerfsX12 (E400SfsX12) at the protein level. The surrounding sequence is GCCT[del22][TCATC]CTCC. The variant causes a frameshift which changes a Glutamic Acid to a Serine at codon 400, and creates a premature stop codon at position 12 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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