ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.1676C>T (p.Thr559Met)

gnomAD frequency: 0.00004  dbSNP: rs143124682
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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 RCV003414514 SCV004106458 uncertain significance NRP1-related disorder 2024-05-28 no assertion criteria provided clinical testing The NRP1 c.1676C>T variant is predicted to result in the amino acid substitution p.Thr559Met. This variant was reported in an individual with isolated hypogonadotropic hypogonadism (Men et al. 2021. PubMed ID: 34636164). This variant is reported in 0.014% of alleles in individuals of Latino 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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