ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.545dup (p.Leu182fs) (rs878853941)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230682 SCV000284596 pathogenic PTEN hamartoma tumor syndrome 2016-01-27 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 6 of the PTEN mRNA (c.545dupT), causing a frameshift at codon 182. This creates a premature translational stop signal (p.Leu182Phefs*8) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating 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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