ClinVar Miner

Submissions for variant NM_001126128.2(PROK2):c.-4C>A

gnomAD frequency: 0.00073  dbSNP: rs552496938
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987292 SCV001136550 benign Hypogonadotropic hypogonadism 4 with or without anosmia 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994180 SCV004813781 benign not specified 2024-02-29 criteria provided, single submitter clinical testing Variant summary: PROK2 c.-4C>A is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 0.00013 in 1237522 control chromosomes, predominantly at a frequency of 0.0024 within the African or African-American subpopulation in the gnomAD database. c.-4C>A has been reported in the literature in at-least one individual affected with Kallmann syndrome without strong evidence for causality (example: Dode_2006). This report does not provide unequivocal conclusions about association of the variant with Hypogonadotropic Hypogonadism 4 With Or Without Anosmia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 17054399). ClinVar contains an entry for this variant (Variation ID: 801987). Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV004702554 SCV005201986 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing Identified in the heterozygous state in an individual with Kallmann syndrome in published literature (PMID: 17054399); This variant is associated with the following publications: (PMID: 17054399)
PreventionGenetics, part of Exact Sciences RCV003936239 SCV004756675 likely benign PROK2-related disorder 2021-08-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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