ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.216_219dup (p.Arg74Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994747 SCV004812824 pathogenic PTEN hamartoma tumor syndrome 2023-06-06 criteria provided, single submitter clinical testing This sequence change in PTEN is a nonsense variant predicted to cause a premature stop codon, p.(Arg74*), in biologically relevant exon 4/9 leading to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism (PMID:21194675). This variant is absent from the population database gnomAD v2.1 and v3.1. To our knowledge, this variant has not been previously reported in the relevant scientific literature or databases. The variant has been identified in at least one individual (Royal Melbourne Hospital) who meets the specific criteria for PTEN-related Cowden Syndrome (PMID: 21194675). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as PATHOGENIC. Following criteria are met: PVS1, PM2_Supporting, PS4_Supporting

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