ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1066A>T (p.Asn356Tyr) (rs587782345)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169786 SCV000222099 uncertain significance not provided 2017-10-18 criteria provided, single submitter clinical testing This variant is denoted PTEN c.1066A>T at the cDNA level, p.Asn356Tyr (N356Y) at the protein level, and results in the change of an Asparagine to a Tyrosine (AAT>TAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. PTEN Asn356Tyr was not observed in large population cohorts (Lek 2016). Since Asparagine and Tyrosine differ in some properties, this is considered a semi-conservative amino acid substitution. PTEN Asn356Tyr occurs at a position that is conserved across species and is located in the C-terminal domain (Wang 2008). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether PTEN Asn356Tyr is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000456755 SCV000541615 uncertain significance PTEN hamartoma tumor syndrome 2019-10-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine with tyrosine at codon 356 of the PTEN protein (p.Asn356Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 189397). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001009830 SCV001169944 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-06 criteria provided, single submitter clinical testing Insufficient evidence

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