ClinVar Miner

Submissions for variant NM_001126128.2(PROK2):c.94G>C (p.Gly32Arg)

gnomAD frequency: 0.00014  dbSNP: rs104893767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003784 SCV000023949 pathogenic Hypogonadotropic hypogonadism 4 with or without anosmia 2006-10-20 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003415642 SCV004114874 uncertain significance PROK2-related disorder 2024-03-25 no assertion criteria provided clinical testing The PROK2 c.94G>C variant is predicted to result in the amino acid substitution p.Gly32Arg. This variant was reported in the heterozygous state in an individual with Kallmann syndrome (Dodé et al. 2006. PubMed ID: 17054399). This variant is reported in 0.037% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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