ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.68T>G (p.Leu23Ter)

dbSNP: rs1589596407
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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 RCV001025787 SCV001188040 pathogenic Hereditary cancer-predisposing syndrome 2023-11-09 criteria provided, single submitter clinical testing The c.68T>G (p.L23*) alteration, located in exon 1 (coding exon 1) of the PTEN gene, consists of a T to G substitution at nucleotide position 68. This changes the amino acid from a leucine (L) to a stop codon at amino acid position 23. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration was reported in multiple individuals with features consistent with PTEN hamartoma tumor syndrome (Kingston, 2019; Pena-Couso, 2022). Based on the available evidence, this alteration is classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003509651 SCV004295291 pathogenic PTEN hamartoma tumor syndrome 2023-03-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu23*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with PTEN-related conditions (PMID: 12938083, 35227301). ClinVar contains an entry for this variant (Variation ID: 826697). For these reasons, this variant has been classified as Pathogenic.

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