ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.116del (p.Val39fs) (rs1064794152)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483540 SCV000567993 pathogenic not provided 2015-09-21 criteria provided, single submitter clinical testing This deletion of one nucleotide in PMS2 is denoted c.116delT at the cDNA level and p.Val39GlufsX4 (V39EfsX4) at the protein level. The normal sequence, with the base that is deleted in braces, is GCGG[T]AAAG. The deletion causes a frameshift, which changes a Valine to a Glutamic Acid at codon 39, and creates a premature stop codon at position 4 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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