ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.968dup (p.Asn323fs) (rs121913291)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479366 SCV000565450 pathogenic not provided 2017-01-18 criteria provided, single submitter clinical testing The c.968dupA variant in the PTEN gene has been reported previously in association with PTEN-hamartoma tumor syndrome (Tan et al., 2007; Bubien et al., 2013). This duplication causes a frameshift starting with codon Asparagine 323, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Asn323LysfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.968dupA to be pathogenic.
Invitae RCV000645034 SCV000766773 pathogenic PTEN hamartoma tumor syndrome 2017-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn323Lysfs*2) in the PTEN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with PTEN hamartoma tumor syndrome (PMID: 17526801, 20962022, 23335809). ClinVar contains an entry for this variant (Variation ID: 156511). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.
Pathway Genomics RCV000144658 SCV000189985 likely pathogenic Cowden syndrome 1 2014-07-24 no assertion criteria provided clinical testing

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