Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clingen PTEN Variant Curation Expert Panel, |
RCV002286568 | SCV002576573 | uncertain significance | PTEN hamartoma tumor syndrome | 2020-10-20 | reviewed by expert panel | curation | PTEN c.-943C>T (NC_000010.10:g.89623283C>T) 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. |
Gene |
RCV000258977 | SCV000149486 | uncertain significance | not provided | 2023-06-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.-943C>T |
Ambry Genetics | RCV000115577 | SCV000187185 | uncertain significance | Hereditary cancer-predisposing syndrome | 2014-03-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763681 | SCV000894561 | uncertain significance | Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001175018 | SCV001338534 | uncertain significance | not specified | 2020-04-17 | criteria provided, single submitter | clinical testing | Variant summary: PTEN c.-944C>T (alternatively name c.-943C>T) is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 3.2e-05 in 31296 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-944C>T in individuals affected with Cowden Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |