ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.401T>G (p.Met134Arg) (rs1085308046)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498118 SCV000589352 likely pathogenic not provided 2017-04-14 criteria provided, single submitter clinical testing The M134R missense variant in the PTEN gene has been reported previously in at least one family with features of Bannayan-Riley-Ruvalcaba syndrome (Figer et al., 2002). This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M134R 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 (M134I) has been reported in association with a PTEN-related disorder, supporting the functional importance of this region of the protein (Busa et al., 2013). Based on currently available evidence, M134R is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.

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