ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1687_1693del (p.Arg563fs) (rs1064795345)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484807 SCV000571056 pathogenic not provided 2016-07-25 criteria provided, single submitter clinical testing This deletion of seven nucleotides in PMS2 is denoted c.1687_1693delCGAGTTT at the cDNA level and p.Arg563CysfsX30 (R563CfsX30) at the protein level. The normal sequence, with the bases that are deleted in braces, is ATTT[CGAGTTT]TGCC. The deletion causes a frameshift which changes an Arginine to a Cysteine at codon 563, and creates a premature stop codon at position 30 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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