ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.605G>C (p.Gly202Ala)

gnomAD frequency: 0.00002  dbSNP: rs941004239
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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 RCV003412089 SCV004108629 uncertain significance NRP1-related disorder 2022-09-21 criteria provided, single submitter clinical testing The NRP1 c.605G>C variant is predicted to result in the amino acid substitution p.Gly202Ala. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant 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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