ClinVar Miner

Submissions for variant NM_000535.5(PMS2):c.989-?_1144+?del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472627 SCV000564011 pathogenic Lynch syndrome 2016-12-24 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exon 10 of the PMS2 gene. This leads to the deletion of 52 amino acid residues in the PMS2 protein (p.Glu330_Glu381del), but is otherwise expected to preserve the integrity of the reading frame. Similar deletions of exon 10 have been reported in several patients with Lynch syndrome (PMID: 23837913, 22577899, 18602922). For these reasons, this deletion has been classified as Pathogenic.

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