Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000790884 | SCV000930113 | likely pathogenic | PTEN hamartoma tumor syndrome | 2019-06-25 | reviewed by expert panel | curation | PTEN c.740T>C (p.Leu247Ser) meets criteria to be classified as likely pathogenic 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: Absent in large sequenced populations (PMID 27535533). PM6: Assumed de novo, but without confirmation of paternity and maternity in a patient with the disease and no family history. (PMID 28086757) PP2: PTEN is defined by the PTEN Expert Panel as a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease. PS4_P: Proband(s) with phenotype specificity score of 1-1.5. (PMID 28086757) |
Department of Pediatrics and Neonatology, |
RCV000416564 | SCV000264589 | pathogenic | Macrocephaly/autism syndrome | 2015-11-01 | no assertion criteria provided | research | Patient, a 4 year-old girl, showed mild developmental delay, hypotonia, and dysmorphic facial features. Her last head circumference was 56.5 cm (+4.0SD). This mutation was confirmed de novo. The expression level of phosphorylated S6 ribosomal protein in her lymphoblastoid cell line was elevated. |