ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.-821C>G

dbSNP: rs1064793784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001027283 SCV001189818 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-23 criteria provided, single submitter clinical testing The c.-820C>G variant is located in the 5' untranslated region (5’ UTR) of the PTEN gene. This variant results from a C to G substitution 820 bases upstream from the first translated codon. This nucleotide position is highly conserved in available vertebrate species. 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). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226419 SCV003922626 uncertain significance not specified 2023-03-20 criteria provided, single submitter clinical testing

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