ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.-837C>T (rs786201900)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164420 SCV000215059 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-18 criteria provided, single submitter clinical testing The c.-837C>T variant is located in the 5' untranslated region (5’ UTR) of the PTEN gene. This variant results from a C to T substitution 837 bases upstream from the first translated codon. This variant is located in the promoter region of the PTEN gene, but its potential impact on PTEN regulation has not yet been investigated (Zhou XP et al. Am. J. Hum. Genet. 2003 Aug;73:404-11). This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986005 SCV001134778 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000581555 SCV001363516 uncertain significance not specified 2019-10-28 criteria provided, single submitter clinical testing Variant summary: PTEN c.-838C>T (also known as c.-837C>T) is located in the untranslated mRNA region upstream of the initiation codon. The variant was absent in 31232 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.-838C>T in individuals affected with Cowden Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters (submission after 2014) cite the variant once as uncertain significance and once as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000581555 SCV000691989 likely benign not specified no assertion criteria provided clinical testing

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