ClinVar Miner

Submissions for variant NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter)

gnomAD frequency: 0.00003  dbSNP: rs548527219
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000512633 SCV000787499 likely pathogenic Oocyte maturation defect 4 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Oocyte maturation defect 4, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease. PS3-Moderate => PS3 downgraded in strength to Moderate (PMID:28965844). PVS1-Strong => PVS1 downgraded in strength to Strong (PMID:28965844).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449808 SCV001653100 likely pathogenic Oocyte maturation defect 2 2021-04-02 criteria provided, single submitter clinical testing The p.Arg160X variant in PATL2 has been reported as homozygous in 8 Middle Eastern and North African women with oocyte maturation arrest and segregated with disease in 1 affected individual from 1 family (Maddirevula 2017 PMID: 28965844, Christou-Kent 2018 PMID: 29661911, Okutman 2021 PMCID: PMC7999157). This variant has also been reported by other clinical laboratories in ClinVar (Variation ID: 444045) and has also been identified in 0.003% (3/154084) of pan-ethnic chromosomes by gnomAD ( This nonsense variant leads to a premature termination codon at position 160, which is predicted to lead to a truncated or absent protein. Loss of function of the PATL2 gene is strongly associated to autosomal recessive oocyte maturation arrest. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive oocyte maturation arrest. ACMG/AMP Criteria applied: PVS1_Strong, PM3, PM2_Supporting.
OMIM RCV000512633 SCV000608332 pathogenic Oocyte maturation defect 4 2023-04-10 no assertion criteria provided literature only
Diagnostic Laboratory, Strasbourg University Hospital RCV000512633 SCV001478471 pathogenic Oocyte maturation defect 4 2021-02-09 no assertion criteria provided clinical testing Patient is from a consanguineous family. She underwent four failed IVF attempts; all retrieved oocytes were either degenerate or immature.

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