ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.270C>T (p.Phe90=)

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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 RCV004726540 SCV005337340 uncertain significance NRP1-related disorder 2024-08-02 no assertion criteria provided clinical testing The NRP1 c.270C>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to impact splicing based on splicing prediction programs (SpliceAI, Jaganathan K, et al. 2019. PubMed ID: 30661751). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of East Asian 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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