ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.656A>C (p.Gln219Pro)

dbSNP: rs1554825172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518984 SCV000616841 uncertain significance not specified 2017-06-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777175 SCV000912866 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003509557 SCV004325673 uncertain significance PTEN hamartoma tumor syndrome 2023-09-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PTEN protein function. ClinVar contains an entry for this variant (Variation ID: 449090). This variant has not been reported in the literature in individuals affected with PTEN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 219 of the PTEN protein (p.Gln219Pro).

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