ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.579G>A (p.Leu193=) (rs568851024)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162705 SCV000213165 likely benign Hereditary cancer-predisposing syndrome 2014-09-18 criteria provided, single submitter clinical testing
Color RCV000162705 SCV000686293 likely benign Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing
Counsyl RCV000663101 SCV000786211 likely benign Cowden syndrome 1 2018-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000437368 SCV000514312 benign not specified 2015-06-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000437368 SCV000596621 likely benign not specified 2016-07-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000123049 SCV000365739 likely benign PTEN hamartoma tumor syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000585959 SCV000696536 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing Variant summary: The PTEN c.579G>A (p.Leu193Leu) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 11/121242 control chromosomes at a frequency of 0.0000907 in ExAC, however, this number needs to be taken with caution due to the fact that the sequence surrounding variant of interest has high homology with pseudo gene. The variant has been reported in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000123049 SCV000166344 benign PTEN hamartoma tumor syndrome 2018-01-08 criteria provided, single submitter clinical testing

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