ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.2039C>T (p.Thr680Met)

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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 RCV004743919 SCV005356591 uncertain significance NRP1-related disorder 2024-06-06 no assertion criteria provided clinical testing The NRP1 c.2039C>T variant is predicted to result in the amino acid substitution p.Thr680Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African 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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