ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.-798G>C (rs587779992)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000232535 SCV000863481 uncertain significance PTEN hamartoma tumor syndrome 2018-04-06 reviewed by expert panel curation PTEN c.-798G>C (NC_000010.10:g.89623428G>C) is currently classified as a variant of uncertain significance 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). No criteria currently apply to this variant.
GeneDx RCV000258981 SCV000149478 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-799G>C, and describes a nucleotide substitution 799 base pairs upstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the base that is substituted in brackets, is AGTT[G/C]AGCC. This variant, also called c.-798G>C using alternate nomenclature, was reported in at least one patient with Cowden syndrome and was absent in 186 control subjects (Teresi 2007, Nizialek 2015). However, functional studies did not identify any transcriptional or translational modifications affecting PTEN protein expression (Teresi 2007). Variants within the PTEN promoter have been observed in individuals with features of Cowden syndrome (Zhou 2003). Based on currently available evidence, it is unclear whether PTEN c.-799G>C is a pathogenic or benign variant. We consider this to be a variant of uncertain significance.
Ambry Genetics RCV000115569 SCV000185531 likely benign Hereditary cancer-predisposing syndrome 2013-12-13 criteria provided, single submitter clinical testing
Invitae RCV000232535 SCV000284574 likely benign PTEN hamartoma tumor syndrome 2016-03-07 criteria provided, single submitter clinical testing

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