ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr)

dbSNP: rs786201995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169787 SCV000222100 pathogenic not provided 2016-07-13 criteria provided, single submitter clinical testing The D24Y missense variants in the PTEN gene has been reported previously in association with Bannayan-Riley-Ruvalcaba syndrome (Celebi et al., 1999). The D24Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in charge and size. This substitution occurs at a position that is highly conserved across species. Additionally, other missense variants in the same residue (D24H, D24V, D24G) have been reported, supporting the functional importance of this region of the protein. Furthermore, D24Y was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Myriad Genetics, Inc. RCV003454429 SCV004188875 pathogenic Cowden syndrome 1 2023-09-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 10232405, 23335809]. Functional studies indicate this variant impacts protein function [PMID: 17213812].
PreventionGenetics, part of Exact Sciences RCV004535153 SCV004717196 pathogenic PTEN-related disorder 2024-01-04 no assertion criteria provided clinical testing The PTEN c.70G>T variant is predicted to result in the amino acid substitution p.Asp24Tyr. This variant has been reported to have arisen de novo in one individual with Cowden syndrome (Tok Çelebi et al. 1999. PubMed ID: 10232405) and another individual with symptoms consistent with PTEN-related disease (Pelttari et al. 2018. PubMed ID: 28802053). This variant has not been reported in a large population database and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/189398/). Alternate nucleotide changes affecting the same amino acid (p.Asp24His, p.Asp24Gly, p.Asp24Asn) have been reported in individuals with Cowden syndrome and interpreted as pathogenic or likely pathogenic in ClinVar (Tan et al. 2011. PubMed ID: 21194675; Melbārde-Gorkuša et al. 2012 PubMed ID: 22503188; Pradella et al. 2014. PubMed ID: 24498881; ClinVar Variation IDs: 185200, 186005 and 208723). Taken together, this variant is interpreted as pathogenic.

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