ClinVar Miner

Submissions for variant NM_000901.5(NR3C2):c.2092C>T (p.Pro698Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003831650 SCV004639094 uncertain significance not provided 2023-04-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with NR3C2-related conditions. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 698 of the NR3C2 protein (p.Pro698Ser).
Fulgent Genetics, Fulgent Genetics RCV005030307 SCV005663042 uncertain significance Pseudohyperaldosteronism type 2; Autosomal dominant pseudohypoaldosteronism type 1 2024-05-04 criteria provided, single submitter clinical testing

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