ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.113C>G (p.Pro38Arg) (rs1064796886)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484991 SCV000574053 likely pathogenic not provided 2017-03-21 criteria provided, single submitter clinical testing The P38R variant in the PTEN gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P38R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant at the same residue (P38H) has been reported in a patient suspicious for PTEN-hamartoma tumor syndrome, supporting the functional importance of this region of the protein (Klein et al., 2013). Based on the currently available information, P38R is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.

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