ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1133_1136del (p.Arg378fs) (rs1064794878)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775941 SCV000910440 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing
GeneDx RCV000481112 SCV000570139 likely pathogenic not provided 2016-04-29 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in PTEN is denoted c.1133_1136delGATA at the cDNA level and p.Arg378IlefsX37 (R378IfsX37) at the protein level. The normal sequence, with the bases that are deleted in braces, is TATA[GATA]TTCT. The deletion causes a frameshift, which changes an Arginine to an Isoleucine at codon 378, and results in an extension of the protein. The last 26 amino acids are replaced by 36 incorrect ones, likely disrupting the PDZ domain-binding region, the C-terminal tail, and multiple phosphorylated residues (Nguyen 2014, UniProt). This variant has not, to our knowledge, been published in the literature as either a pathogenic germline variant or benign polymorphism. However, it has been reported as a somatic variant in glioblastoma multiforme tumors (Fults 1998, Tunca 2007, Parsons 2008). Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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