ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.79+7A>T (rs374331677)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480616 SCV000570454 uncertain significance not provided 2016-05-27 criteria provided, single submitter clinical testing This variant is denoted PTEN c.79+7A>T or IVS1+7A>T and consists of a A>T nucleotide substitution at the +7 position of intron 1 of the PTEN gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. PTEN c.79+7A>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The adenine (A) nucleotide that is altered is conserved through mammals. In silico splicing models are uninformative. Therefore, based on currently available information we consider PTEN c.79+7A>T to be a variant of uncertain significance.
Color RCV000579836 SCV000686307 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-12 criteria provided, single submitter clinical testing
Invitae RCV000480616 SCV000766820 likely benign not provided 2018-10-22 criteria provided, single submitter clinical testing

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