ClinVar Miner

Submissions for variant NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr)

gnomAD frequency: 0.00001  dbSNP: rs1011539285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000512631 SCV000787466 uncertain significance Oocyte maturation defect 4 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance, 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. PS3-Moderate => PS3 downgraded in strength to Moderate (PMID:28965849).
OMIM RCV000512631 SCV000608338 pathogenic Oocyte maturation defect 4 2023-04-10 no assertion criteria provided literature only

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