ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter)

dbSNP: rs137852634
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV002298438 SCV002588792 pathogenic Bronchiectasis with or without elevated sweat chloride 2 2022-11-03 criteria provided, single submitter clinical testing The c.1522C>T;p.(Arg508*) variant creates a premature translational stop signal in the SCNN1A gene. It is expected to result in an absent or disrupted protein product - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID:9264; PMID: 10510337) - PS4. The variant is present at low allele frequencies population databases (rs137852634 – gnomAD 0.0001768%; ABraOM no frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002482850 SCV002790246 likely pathogenic Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2022-02-16 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV002298438 SCV005442103 uncertain significance Bronchiectasis with or without elevated sweat chloride 2 2024-12-19 criteria provided, single submitter clinical testing
OMIM RCV000009846 SCV000030067 pathogenic Pseudohypoaldosteronism, type IB1, autosomal recessive 1999-10-01 no assertion criteria provided literature only

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