ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.875del (p.Asn292fs)

dbSNP: rs786204905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480589 SCV000567348 pathogenic not provided 2024-12-03 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); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 11854177, 37686092)
Labcorp Genetics (formerly Invitae), Labcorp RCV001038349 SCV001201815 pathogenic PTEN hamartoma tumor syndrome 2020-10-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asn292Metfs*15) 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 not been reported in the literature in individuals with PTEN-related conditions. ClinVar contains an entry for this variant (Variation ID: 419505). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675).
Myriad Genetics, Inc. RCV003449194 SCV004189589 pathogenic Cowden syndrome 1 2023-10-02 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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