ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.505_506del (p.Thr169fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005011514 SCV005629569 pathogenic Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2024-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005112561 SCV005836340 pathogenic not provided 2024-05-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr169Serfs*36) in the SCNN1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCNN1A are known to be pathogenic (PMID: 10403853, 23416952). This variant is present in population databases (no rsID available, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with pseudohypoaldosteronism (PMID: 10403853). This variant is also known as 604delAC. For these reasons, this variant has been classified as Pathogenic.

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