ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2319dup (p.Lys774Ter) (rs1554293975)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657836 SCV000779592 pathogenic not provided 2018-01-12 criteria provided, single submitter clinical testing This variant is denoted PMS2 c.2319dupT->T at the cDNA level and p.Lys774Ter (K774X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAA>TAA), and is predicted to cause loss of normal protein function through protein truncation. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

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