ClinVar Miner

Submissions for variant NM_000314.6(PTEN):c.-921G>A

dbSNP: rs786203676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167087 SCV000217915 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-21 criteria provided, single submitter clinical testing The c.-921G>A variant is located in the 5' untranslated region (5’ UTR) of the PTEN gene. This variant results from a G to A substitution 921 bases upstream from the first translated codon. Another alteration at the same position (designated as c.-920G>T) has been reported in an individual with PTEN hamartoma tumor syndrome (Zhou XP et al. Am. J. Hum. Genet. 2003 Aug;73:404-11). This nucleotide position is highly 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 RCV001800504 SCV002047266 uncertain significance not provided 2021-02-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000583400 SCV000691988 uncertain significance not specified no assertion criteria provided clinical testing

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