ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.432del (p.Lys144fs)

dbSNP: rs1114167657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491399 SCV000580025 pathogenic Hereditary cancer-predisposing syndrome 2017-01-23 criteria provided, single submitter clinical testing The c.432delA pathogenic mutation, located in coding exon 5 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 432, causing a translational frameshift with a predicted alternate stop codon (p.K144Nfs*3). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002523977 SCV003292970 pathogenic PTEN hamartoma tumor syndrome 2022-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 428236). This variant has not been reported in the literature in individuals affected with PTEN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys144Asnfs*3) in the PTEN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675).

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