ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.577C>T (p.Leu193=)

dbSNP: rs772631069
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen PTEN Variant Curation Expert Panel, Clingen RCV000709132 SCV002576561 likely benign PTEN hamartoma tumor syndrome 2021-06-04 reviewed by expert panel curation PTEN c.577C>T (p.Leu193=) meets criteria to be classified as likely benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). PM2: Present at extremely low (<0.00001, 0.001%) allele frequency in the gnomAD cohort. (PMID 27535533). BP4: Synonymous variant where at least 2 out of 3 in silico models predict no splicing impact. BP7: Variant is synonymous (silent) and no splicing impact is predicted.
Ambry Genetics RCV000573509 SCV000665357 likely benign Hereditary cancer-predisposing syndrome 2016-12-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000573509 SCV000691174 likely benign Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000606667 SCV000728955 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000709132 SCV000838419 benign PTEN hamartoma tumor syndrome 2023-08-22 criteria provided, single submitter clinical testing
Invitae RCV000709132 SCV003468381 likely benign PTEN hamartoma tumor syndrome 2023-11-24 criteria provided, single submitter clinical testing

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