ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.202T>G (p.Tyr68Asp) (rs398123317)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645035 SCV000766774 likely pathogenic PTEN hamartoma tumor syndrome 2017-11-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 68 of the PTEN protein (p.Tyr68Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Proteus syndrome and his mother with Cowden syndrome (PMID: 16704655). Experimental studies in yeast have shown that this missense change causes loss of PTEN catalytic activity (PMID: 21828076). Different missense substitutions at this codon (p.Tyr68His, Tyr68Cys) have been determined to be pathogenic (PMID: 10866302, 20926450, 19457929, 25669429, 9467011, 26246517, 24778394, 21956414). This suggests that the tyrosine residue is critical for PTEN protein function and that other missense substitutions at this position may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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