ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.437del (p.Phe145_Leu146insTer)

dbSNP: rs1114167627
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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 RCV000490968 SCV000579978 pathogenic Hereditary cancer-predisposing syndrome 2018-03-06 criteria provided, single submitter clinical testing The c.437delT pathogenic mutation (also known as p.L146*), located in coding exon 5 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 437, causing a translational frameshift and a stop codon at amino acid position 146. 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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