ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.955dup (p.Thr319fs) (rs786204892)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169833 SCV000222154 pathogenic not provided 2017-06-09 criteria provided, single submitter clinical testing This duplication of one nucleotide is denoted PTEN c.955dupA at the cDNA level and p.Thr319AsnfsX6 (T319NfsX6) at the protein level. The normal sequence, with the base that is duplicated in brackets, is ACTT[dupA]CTTT. The duplication causes a frameshift, which changes a Threonine to an Asparagine at codon 319, and creates a premature stop codon at position 6 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. PTEN c.955dupA, previously reported as c.956dupA, has been published in association with a PTEN-related disorder (Tan 2007, Pilarski 2011). we consider this variant to be pathogenic.
Invitae RCV000801646 SCV000941433 pathogenic PTEN hamartoma tumor syndrome 2018-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr319Asnfs*6) 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 observed in individuals affected with clinical features of PTEN hamartoma tumor syndrome (PMID: 17526801, 21659347). Additionally, this variant has been reported in an individual affected with colon polyps and lipoma (PMID: 26681312). This variant is also known as c.955insA in the literature. ClinVar contains an entry for this variant (Variation ID: 189440). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.

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