Submissions for variant NM_000314.6(PTEN):c.-868G>C

dbSNP: rs587782133

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000130678	SCV000185564	uncertain significance	Hereditary cancer-predisposing syndrome	2014-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000588328	SCV000222214	uncertain significance	not provided	2022-11-14	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Also known as c.-868G>C
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001526858	SCV000696543	uncertain significance	not specified	2021-05-19	criteria provided, single submitter	clinical testing	Variant summary: PTEN c.-869G>C (refseq HGVScdot: c.-868G>C) is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 6.4e-05 in 31192 control chromosomes (gnomAD). 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.-869G>C in individuals affected with Cowden Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics	RCV000763682	SCV000894562	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
Mendelics	RCV004700442	SCV001138117	likely benign	Hereditary cancer	2024-09-11	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following: it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease, and/or has normal protein function, and/or has lack of segregation with disease, and/or has been detected in co-occurrence with known pathogenic variant, and/or has lack of disease association in case-control studies, and/or is located in a region inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago	RCV001526858	SCV002065791	uncertain significance	not specified	2019-04-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000588328	SCV002497058	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	PTEN: BS1