Submissions for variant NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)

gnomAD frequency: 0.00180  dbSNP: rs61759926

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151818	SCV000200285	likely benign	not specified	2014-07-01	criteria provided, single submitter	clinical testing	Gly589Ser in exon 13 of SCNN1B: This variant is not expected to have clinical si gnificance due to a lack of evolutionary conservation of the affected amino acid . Of note, 10 mammals carry a serine (Ser) at this position. Additionally, this variant has been identified in 19/8596 European American chromosomes and 3/4392 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs. gs.washington.edu/EVS/; dbSNP rs61759926).
Illumina Laboratory Services, Illumina	RCV000389821	SCV000395926	likely benign	Liddle syndrome 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000274463	SCV000395927	likely benign	Bronchiectasis with or without elevated sweat chloride 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000331370	SCV000395928	likely benign	Pseudohypoaldosteronism, type IB1, autosomal recessive	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000893164	SCV001037081	benign	not provided	2023-10-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498706	SCV002795535	likely benign	Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB1, autosomal recessive	2021-11-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952727	SCV004771890	likely benign	SCNN1B-related disorder	2023-05-24	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).