ClinVar Miner

Submissions for variant NM_000901.5(NR3C2):c.1654C>T (p.Pro552Ser)

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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 RCV004650390 SCV005141141 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.1654C>T (p.P552S) alteration is located in exon 2 (coding exon 1) of the NR3C2 gene. This alteration results from a C to T substitution at nucleotide position 1654, causing the proline (P) at amino acid position 552 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038760 SCV005663054 uncertain significance Pseudohyperaldosteronism type 2; Autosomal dominant pseudohypoaldosteronism type 1 2024-02-29 criteria provided, single submitter clinical testing

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