ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.159_163del (p.Arg55fs)

dbSNP: rs2132187850
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001805585 SCV002053494 pathogenic Hereditary cancer-predisposing syndrome 2021-03-22 criteria provided, single submitter clinical testing This variant deletes five nucleotides the PTEN gene predicted to result in a frameshift and premature translation stop signal in exon 3. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. 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.

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