ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.741_742dup (p.Pro248fs)

dbSNP: rs1554825222
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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 RCV000583097 SCV000691181 pathogenic Hereditary cancer-predisposing syndrome 2021-04-27 criteria provided, single submitter clinical testing This variant inserts 2 nucleotides in exon 7 of the PTEN gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, 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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