ClinVar Miner

Submissions for variant NM_001304718.2(PTEN):c.-676_-674del (rs1114167649)

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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 RCV000491564 SCV000580011 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Invitae RCV000645037 SCV000766776 uncertain significance PTEN hamartoma tumor syndrome 2017-11-18 criteria provided, single submitter clinical testing This variant, c.30_32delCAG, results in the deletion of 1 amino acid of the PTEN protein (p.Ser10del), but otherwise preserves the integrity of the reading frame. 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: 428224). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.

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