ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.309del (p.Cys105fs)

dbSNP: rs1554898088
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507216 SCV000602120 likely pathogenic not provided 2017-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023422 SCV000742431 pathogenic Hereditary cancer-predisposing syndrome 2024-02-16 criteria provided, single submitter clinical testing The c.309delC pathogenic mutation, located in coding exon 5 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 309, causing a translational frameshift with a predicted alternate stop codon (p.C105Vfs*8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Mayo Clinic Laboratories, Mayo Clinic RCV000507216 SCV000692008 likely pathogenic not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV002275045 SCV002562841 likely pathogenic Seizure no assertion criteria provided clinical testing

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