ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.850G>T (p.Glu284Ter)

dbSNP: rs786202840
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165862 SCV000216611 pathogenic Hereditary cancer-predisposing syndrome 2016-01-13 criteria provided, single submitter clinical testing The p.E284* pathogenic mutation (also known as c.850G>T) located in coding exon 8 of the PTEN gene, results from a G to T substitution at nucleotide position 850. This changes the amino acid from a glutamic acid to a stop codon within coding exon 8. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294)

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