ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.586dup (p.His196fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002353447 SCV002654286 pathogenic Hereditary cancer-predisposing syndrome 2021-01-20 criteria provided, single submitter clinical testing The c.586dupC pathogenic mutation, located in coding exon 6 of the PTEN gene, results from a duplication of C at nucleotide position 586, causing a translational frameshift with a predicted alternate stop codon (p.H196Pfs*6). 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.

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