ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.275A>G (p.Asp92Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685656 SCV000813144 likely pathogenic PTEN hamartoma tumor syndrome 2018-08-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 92 of the PTEN protein (p.Asp92Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be suspected de novo in an individual with clinical features of PTEN-associated conditions (Invitae). Experimental studies in yeast have shown that this missense change causes loss of PTEN catalytic activity (PMID: 21828076). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. The observation of one or more missense substitutions at this codon (p.Asp92Ala) in affected individuals suggests that this may be a clinically significant residue (PMID: 21828076, 23335809). 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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