Submissions for variant NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs)

gnomAD frequency: 0.00001  dbSNP: rs756434927

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001579849	SCV004295829	pathogenic	not provided	2024-01-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr484Thrfs*13) 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 (rs756434927, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with pseudohypoaldosteronism type 1 (PMID: 10586178). ClinVar contains an entry for this variant (Variation ID: 9265). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV005003350	SCV005629507	pathogenic	Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3	2024-04-11	criteria provided, single submitter	clinical testing
OMIM	RCV000009847	SCV000030068	pathogenic	Pseudohypoaldosteronism, type IB1, autosomal recessive	1999-12-01	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579849	SCV001808732	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001579849	SCV001957649	pathogenic	not provided		no assertion criteria provided	clinical testing