ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.752_753TG[2] (p.Cys252_Glu253delinsTer) (rs1064794905)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481690 SCV000570185 pathogenic not provided 2016-05-02 criteria provided, single submitter clinical testing This deletion of 2 nucleotides is denoted PMS2 c.756_757delTG at the cDNA level and p.Cys252Ter (C252X) at the protein level. The normal sequence, with the bases that are deleted in braces, is TGTG[TG]AAGA. The deletion creates a nonsense variant, which changes a Cysteine to a premature stop codon. Although this variant has not been previously reported to our knowledge, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay, and is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000481690 SCV000889639 likely pathogenic not provided 2018-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026570 SCV001188976 pathogenic Hereditary cancer-predisposing syndrome 2019-07-17 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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