ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.592_594ATG[1] (p.Met199del) (rs1064793244)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482786 SCV000565448 uncertain significance not provided 2014-10-24 criteria provided, single submitter clinical testing This deletion of 3 nucleotides in PTEN is denoted c.595_597delATG at the cDNA level and p.Met199del at the protein level. The normal sequence, with the bases that are deleted in brackets, is GATG[ATG]TTTG. This in frame deletion of a single Methionine residue occurs at a position that is conserved across species and is located in a C2 tensin-type domain (Uniprot). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider PTEN Met199del to be a variant of uncertain significance.
Mendelics RCV000709133 SCV000838420 uncertain significance PTEN hamartoma tumor syndrome 2018-07-02 criteria provided, single submitter clinical testing

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