ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) (rs137852704)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000009378 SCV000282671 pathogenic Pseudoprimary hyperaldosteronism 2016-06-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713386 SCV000843986 pathogenic not provided 2017-08-14 criteria provided, single submitter clinical testing
Invitae RCV000713386 SCV000948280 pathogenic not provided 2018-12-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SCNN1B gene (p.Arg566*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acids of the SCNN1B protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with clinical features of Liddle syndrome (PMID: 27900368, 27896928, 26075967), and has been observed to segregate with Liddle syndrome in a family (PMID: 7954808). This variant is also known as p.Arg564* in the literature. ClinVar contains an entry for this variant (Variation ID: 8830). This variant has been reported to result in constitutive hyperactivity of the SCNN1B sodium channel protein (PMID:7777572). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009378 SCV000029596 pathogenic Pseudoprimary hyperaldosteronism 1994-11-04 no assertion criteria provided literature only

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