ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1891C>T (p.Arg631Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003733369 SCV004525068 uncertain significance not provided 2023-05-19 criteria provided, single submitter clinical testing 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 SCNN1G-related conditions. This variant is present in population databases (rs150854967, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 631 of the SCNN1G protein (p.Arg631Cys).
GeneDx RCV003733369 SCV005390593 uncertain significance not provided 2024-03-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005014914 SCV005644530 uncertain significance Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2; Pseudohypoaldosteronism, type IB3, autosomal recessive 2023-12-29 criteria provided, single submitter clinical testing

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