ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.276C>G (p.Asp92Glu)

dbSNP: rs779530981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001347115 SCV001541360 uncertain significance PTEN hamartoma tumor syndrome 2021-08-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003449974 SCV004188779 likely pathogenic Cowden syndrome 1 2023-09-26 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 21828076]. This variant is expected to disrupt protein structure [Myriad internal data]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 12938083].

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