ClinVar Miner

Submissions for variant NM_000901.5(NR3C2):c.2429C>T (p.Ser810Leu)

dbSNP: rs41511344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005025042 SCV005663027 uncertain significance Pseudohyperaldosteronism type 2; Autosomal dominant pseudohypoaldosteronism type 1 2024-06-04 criteria provided, single submitter clinical testing
OMIM RCV000009088 SCV000029305 pathogenic Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy 2000-07-07 flagged submission literature only
PreventionGenetics, part of Exact Sciences RCV004730839 SCV005339150 pathogenic NR3C2-related disorder 2024-08-29 no assertion criteria provided clinical testing The NR3C2 c.2429C>T variant is predicted to result in the amino acid substitution p.Ser810Leu. This variant was reported to segregate in a large family of individuals with early-onset hypertension; and in several female individuals, the condition was further exacerbated during pregnancy (Geller et al. 2000. PubMed ID: 10884226). Functional studies indicate this variant results in constitutive mineralocorticoid receptor activity by increasing the steroid-receptor complex (Geller et al. 2000. PubMed ID: 10884226; Pinon et al. 2004. PubMed ID: 15134816). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as pathogenic.

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