ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.720del (p.Phe241fs)

dbSNP: rs1589663374
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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 RCV001026160 SCV001188484 pathogenic Hereditary cancer-predisposing syndrome 2019-12-24 criteria provided, single submitter clinical testing The c.720delC pathogenic mutation, located in coding exon 7 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 720, causing a translational frameshift with a predicted alternate stop codon (p.F241Lfs*15). 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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