ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.964A>T (p.Lys322Ter) (rs786202004)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000710298 SCV000840475 likely pathogenic PTEN hamartoma tumor syndrome 2020-03-23 reviewed by expert panel curation PTEN c.964A>T (p.Lys322Ter) meets criteria to be classified as likely pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the "PTEN ACMG Specifications Summary" document (assertion method column). PVS1: Null variant predicted to result in nonsense-mediated decay or causing truncation/frameshift at or 5' to c.1121 (NM_000314.4). PM2: Absent in large sequenced populations
Ambry Genetics RCV000164587 SCV000215246 pathogenic Hereditary cancer-predisposing syndrome 2015-06-03 criteria provided, single submitter clinical testing The p.K322* pathogenic mutation (also known as c.964A>T), located in coding exon 8 of the PTEN gene, results from an A to T substitution at nucleotide position 964. This changes the amino acid from a lysine 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).
GeneDx RCV000217263 SCV000280008 pathogenic not provided 2016-04-12 criteria provided, single submitter clinical testing The K322X nonsense variant in the PTEN gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000710298 SCV001204843 pathogenic PTEN hamartoma tumor syndrome 2020-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys322*) in the PTEN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Cowden syndrome (PMID: 31185301). ClinVar contains an entry for this variant (Variation ID: 185213). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.

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