ClinVar Miner

Submissions for variant NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp)

gnomAD frequency: 0.00014  dbSNP: rs200857997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247451 SCV002519210 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000055646 SCV000083869 pathogenic Myopia 22, autosomal dominant 2013-08-01 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000055646 SCV001142340 uncertain significance Myopia 22, autosomal dominant 2020-01-06 no assertion criteria provided curation NM_152683.3:c.265T>G in PRIMPOL gene has an allele frequency of 0.006 in East Asian subpopulation in the gnomAD database. The PRIMPOL gene is also known as CCDC111. Variants in the PRIMPOL gene is inherited as a dominant model. Since the phenotype (high myopia) is not lethal. The frequency in the genomAD cannot rule out its pathogenicity. Zhao et al reported a pedigree, both patient with high myopia and normal family memebers of which harbors this variant. It is suggested to be not full penetrance (PMID: 23579484). We interpret it as variant of uncertain significance (VUS).

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