ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.2571C>G (p.Ile857Met)

gnomAD frequency: 0.00014  dbSNP: rs144845322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003418747 SCV004118430 uncertain significance NRP1-related disorder 2024-07-17 no assertion criteria provided clinical testing The NRP1 c.2571C>G variant is predicted to result in the amino acid substitution p.Ile857Met. This variant has been reported in the heterozygous state in an individual with Kallmann syndrome; however, the variant was also detected in the unaffected mother (Marcos et al. 2017. PubMed ID: 28334861). This variant is reported in 0.034% 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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