ClinVar Miner

Submissions for variant NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)

gnomAD frequency: 0.00354  dbSNP: rs75398746
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626964 SCV000747667 uncertain significance Premature ovarian insufficiency 2017-01-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000011541 SCV000915304 uncertain significance Premature ovarian failure 2B 2024-11-22 criteria provided, single submitter clinical testing The POF1B c.986G>A (p.Arg329Gln) missense variant has been identified in individuals with premature ovarian failure and was shown to segregate with disease in one family (PMID:16773570; 15459172; 25676666). The highest frequency of this allele in the Genome Aggregation Database is 0.01419 in the Middle Eastern population, which includes two homozygotes (version 4.1.0). An additional 3 homozygotes are reported in the total population. Functional studies suggest that this variant impacts protein function (PMID: 16773570; 21940798). Multiple lines of computational evidence suggest the variant may not impact the gene or gene product. Based on the evidence the c.986G>A (p.Arg329Gln) variant is classified as a variant of uncertain significance for premature ovarian failure.
Labcorp Genetics (formerly Invitae), Labcorp RCV000953408 SCV001099981 benign not provided 2018-06-15 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000011541 SCV001367992 uncertain significance Premature ovarian failure 2B 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.
Revvity Omics, Revvity RCV000011541 SCV003809129 uncertain significance Premature ovarian failure 2B 2020-03-19 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000011541 SCV004810151 uncertain significance Premature ovarian failure 2B 2024-04-04 criteria provided, single submitter clinical testing
OMIM RCV000011541 SCV000031773 pathogenic Premature ovarian failure 2B 2006-07-01 flagged submission literature only
Reproductive Development, Murdoch Childrens Research Institute RCV000011541 SCV001810164 likely pathogenic Premature ovarian failure 2B 2021-02-09 flagged submission research

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