ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.1000C>T (p.Arg334Cys)

gnomAD frequency: 0.00004  dbSNP: rs747418517
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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 RCV003402857 SCV004120245 uncertain significance NRP1-related disorder 2023-12-05 no assertion criteria provided clinical testing The NRP1 c.1000C>T variant is predicted to result in the amino acid substitution p.Arg334Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of South 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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