ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.18A>G (p.Lys6=)

dbSNP: rs876660391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen PTEN Variant Curation Expert Panel, Clingen RCV000710310 SCV000840488 likely benign PTEN hamartoma tumor syndrome 2016-10-12 reviewed by expert panel curation PTEN c.18A>G (p.L6=) meets criteria to be classified as likely benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). Please see a summary of the rules and criteria codes in the 'PTEN ACMG Specifications Summary' document (assertion method column). BP4: Synonymous variant where at least 2 out of 3 in silico models predict no splicing impact. BP7: Variant is synonymous (silent), nucleotide is not conserved, and no splicing impact is predicted.
Ambry Genetics RCV000218095 SCV000277784 likely benign Hereditary cancer-predisposing syndrome 2015-08-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000710310 SCV001658249 likely benign PTEN hamartoma tumor syndrome 2023-04-06 criteria provided, single submitter clinical testing

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