ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.975dup (p.Asp326Ter)

dbSNP: rs1589666183
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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 RCV001019724 SCV001181117 pathogenic Hereditary cancer-predisposing syndrome 2019-08-04 criteria provided, single submitter clinical testing The c.975dupT pathogenic mutation, located in coding exon 8 of the PTEN gene, results from a duplication of T at nucleotide position 975, causing a translational frameshift with a predicted alternate stop codon (p.D326*). 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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