ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.968dup (p.Asn323fs)

dbSNP: rs121913291
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479366 SCV000565450 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23335809, 17526801, 22005521, 20962022, 18626510)
Labcorp Genetics (formerly Invitae), Labcorp RCV000645034 SCV000766773 pathogenic PTEN hamartoma tumor syndrome 2023-11-25 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. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with PTEN hamartoma tumor syndrome (PMID: 17526801, 20962022, 23335809). ClinVar contains an entry for this variant (Variation ID: 156511). For these reasons, this variant has been classified as Pathogenic.
Color Diagnostics, LLC DBA Color Health RCV001192349 SCV001360395 pathogenic Hereditary cancer-predisposing syndrome 2020-05-13 criteria provided, single submitter clinical testing This variant inserts 1 nucleotide in exon 8 of the PTEN gene, creating a frameshift and premature translation stop signal. This variant is expected to truncate the C2, C-tail and PDZ domains that are important for localization, stability and protein-protein interaction (PMID: 26284192). To our knowledge, functional studies have not been performed for this variant. This variant has been reported in individuals suspected of Cowden syndrome or PTEN hamartoma tumor syndrome (PMID: 23335809, 17526801). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of PTEN function is a known mechanism of disease. Based on the available evidence, this variant is classified as Pathogenic.
Myriad Genetics, Inc. RCV000144658 SCV004189609 pathogenic Cowden syndrome 1 2023-10-03 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Pathway Genomics RCV000144658 SCV000189985 likely pathogenic Cowden syndrome 1 2014-07-24 no assertion criteria provided clinical testing

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