ClinVar Miner

Submissions for variant NM_000901.5(NR3C2):c.1051G>A (p.Gly351Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005027187 SCV005663072 likely benign Pseudohyperaldosteronism type 2; Autosomal dominant pseudohypoaldosteronism type 1 2024-04-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005241073 SCV005885261 uncertain significance not specified 2025-02-24 criteria provided, single submitter clinical testing Variant summary: NR3C2 c.1051G>A (p.Gly351Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251344 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1051G>A in individuals affected with NR3C2-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 3590218). Based on the evidence outlined above, the variant was classified as uncertain significance.

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