ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.940G>T (p.Glu314Ter)

dbSNP: rs1455551840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581704 SCV000691200 pathogenic Hereditary cancer-predisposing syndrome 2021-04-27 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 8 of the PTEN gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with Cowden syndrome in the literature (PMID: 30316882). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of PTEN function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
GeneDx RCV004719894 SCV005325308 pathogenic not provided 2023-07-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34666222, 29100278, 25490678, 31700903, 30316882)

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