ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) (rs140927806)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000344774 SCV000395917 likely benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402338 SCV000395918 likely benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305202 SCV000395919 likely benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220161 SCV000272421 uncertain significance not specified 2017-03-20 criteria provided, single submitter clinical testing The p.Ala569Val variant in SCNN1B has been identified by our laboratory in one i ndividual with bronchiectasis. This variant has been identified in 0.1% (69/6637 8) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs140927806). This variant has also been reported in ClinVar (Variant ID:229239). Computational prediction tools and conservation a nalysis do not provide strong support for or against an impact to the protein. I n summary, the clinical significance of the p.Ala569Val variant is uncertain.

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