ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2016del (p.Met672fs) (rs1554295967)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554077 SCV000625578 pathogenic Hereditary nonpolyposis colon cancer 2018-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met672Ilefs*16) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has been observed in an individual with clinical features of Lynch syndrome (PMID: 28874130). ClinVar contains an entry for this variant (Variation ID: 455681). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.

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