Submissions for variant NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)

gnomAD frequency: 0.01206  dbSNP: rs5736

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224250	SCV000280831	benign	not provided	2015-12-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272918	SCV000395718	likely benign	Pseudohypoaldosteronism, type IB1, autosomal recessive	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000328044	SCV000395719	likely benign	Liddle syndrome 2	2017-04-28	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000609005	SCV000711352	benign	not specified	2017-11-02	criteria provided, single submitter	clinical testing	p.Gly183Ser in exon 3 of SCNN1G: This variant is not expected to have clinical s ignificance because it has been identified in 3.6% (868/24032) of African chromo somes including 17 homozygotes by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org; dbSNP rs5736) and there is lack of conservation acr oss species, including mammals. Of note, 44 species have a serine (Ser) residue at this position despite high nearby amino acid conservation. ACMG/AMP Criteria applied: BA1, BS4, BP4.
Athena Diagnostics	RCV000224250	SCV000843991	benign	not provided	2017-11-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224250	SCV001115192	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Mendelics	RCV000272918	SCV001139972	benign	Pseudohypoaldosteronism, type IB1, autosomal recessive	2019-05-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224250	SCV005213474	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000009376	SCV000029594	pathogenic	Bronchiectasis with or without elevated sweat chloride 3	2008-05-28	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003924821	SCV004741226	benign	SCNN1G-related disorder	2019-07-03	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).