ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.248+3_248+6del

dbSNP: rs2493471077
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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 RCV003402723 SCV004120776 uncertain significance NRP1-related disorder 2023-12-07 no assertion criteria provided clinical testing The NRP1 c.248+3_248+6delAAGT variant is predicted to result in an intronic deletion. This variant is predicted to weaken the nearby splice donor site (SpliceAI, Jaganathan K, et al. 2019. PubMed ID: 30661751). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. 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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