ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.319G>T (p.Asp107Tyr) (rs57374291)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570318 SCV000671728 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-10 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Deficient protein function in appropriate functional assay(s);Insufficient evidence
Invitae RCV000690305 SCV000817987 pathogenic PTEN hamartoma tumor syndrome 2019-01-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 107 of the PTEN protein (p.Asp107Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with PTEN hamartoma tumor syndrome (PMID: 23382303). ClinVar contains an entry for this variant (Variation ID: 484614). This variant has been reported to affect PTEN protein function (PMID: 10866302, 29706350, 29785012). This variant disrupts the p.Asp107 amino acid residue in PTEN. Other variant(s) that disrupt this residue have been observed in individuals with PTEN-related conditions (PMID: 28526761, 23886400), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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