ClinVar Miner

Submissions for variant NM_001387263.1(PATL2):c.839G>A (p.Arg280Gln)

gnomAD frequency: 0.00003  dbSNP: rs569729547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000512637 SCV000787500 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. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000512637 SCV005418041 uncertain significance Oocyte maturation defect 4 criteria provided, single submitter clinical testing PM2_Supporting+PP4+PM3_Supporting
OMIM RCV000512637 SCV000608339 pathogenic Oocyte maturation defect 4 2023-04-10 no assertion criteria provided literature only

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