ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.972_977del (p.Leu325_Asp326del)

dbSNP: rs1860630372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280172 SCV002568204 pathogenic Cowden syndrome 1 2022-06-13 criteria provided, single submitter clinical testing PM1, PM2, PM4, PM6_Strong
Myriad Genetics, Inc. RCV002280172 SCV004931654 likely pathogenic Cowden syndrome 1 2024-03-14 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29785012]. 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 [Myriad internal data].

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