ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.675T>G (p.Tyr225Ter) (rs1057520900)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457859 SCV000541618 pathogenic PTEN hamartoma tumor syndrome 2017-07-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr225*) 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 a PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 404162). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000484536 SCV000567747 pathogenic not provided 2015-08-26 criteria provided, single submitter clinical testing This pathogenic variant is denoted PTEN c.675T>G at the cDNA level and p.Tyr225Ter (Y225X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. A different nucleotide change resulting in the same nonsense variant has been identified in at least one individual with Cowden syndrome (Steffann 2014). PTEN Tyr225Ter is considered pathogenic.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678739 SCV000804911 pathogenic Hemangioma 2013-01-30 no assertion criteria provided clinical testing

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