ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.42G>A (p.Arg14=) (rs1064794513)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480384 SCV000569346 uncertain significance not specified 2017-07-28 criteria provided, single submitter clinical testing This variant is denoted PTEN c.42G>A at the DNA level. This variant is silent at the coding level, preserving an Arginine at codon 14, and is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. PTEN c.42G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a guanine (G) at base 42, is conserved across species. Based on currently available information, it is unclear whether PTEN c.42G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000980463 SCV001128417 likely benign not provided 2018-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022242 SCV001183956 likely benign Hereditary cancer-predisposing syndrome 2018-04-20 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001443644 SCV001646628 likely benign PTEN hamartoma tumor syndrome 2020-04-24 criteria provided, single submitter clinical testing

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