ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.1626C>T (p.Gly542=)

gnomAD frequency: 0.00001  dbSNP: rs762826442
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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 RCV003399470 SCV004105846 uncertain significance NRP1-related disorder 2023-04-25 criteria provided, single submitter clinical testing The NRP1 c.1626C>T variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-33496633-G-A). 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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