ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.253+1G>C

dbSNP: rs587776667
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Herman Laboratory, Nationwide Children's Hospital RCV000490594 SCV000579265 pathogenic PTEN hamartoma tumor syndrome 2017-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491885 SCV000580009 pathogenic Hereditary cancer-predisposing syndrome 2017-08-22 criteria provided, single submitter clinical testing The c.253+1G>C intronic pathogenic mutation results from a G to C substitution one nucleotide after coding exon 4 of the PTEN gene. This mutation has been reported in multiple individuals with Cowden syndrome and has also been observed to segregate with disease in multiple families (Nelen MR et al. Hum. Mol. Genet. 1997 Aug; 6(8):1383-7; Tan MH et al. Am. J. Hum. Genet. 2011 Jan; 88(1):42-56; Busch RM et al. Genet. Med. 2013 Jul; 15(7):548-53; Nizialek EA et al. Eur. J. Hum. Genet. 2015 Nov;23:1538-43). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.
Myriad Genetics, Inc. RCV003316641 SCV004018642 pathogenic Cowden syndrome 1 2023-05-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 34386506, 28677221, 23470840, 29931205, 33723755]. mRNA analysis has demonstrated abnormal mRNA splicing occurs [PMID: 28677221].

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.