ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.1789G>A (p.Gly597Arg)

dbSNP: rs141633354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004262090 SCV003890102 uncertain significance not specified 2023-02-15 criteria provided, single submitter clinical testing The c.1789G>A (p.G597R) alteration is located in exon 11 (coding exon 11) of the NRP1 gene. This alteration results from a G to A substitution at nucleotide position 1789, causing the glycine (G) at amino acid position 597 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004741569 SCV005348729 uncertain significance NRP1-related disorder 2024-07-08 no assertion criteria provided clinical testing The NRP1 c.1789G>A variant is predicted to result in the amino acid substitution p.Gly597Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% 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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