Submissions for variant NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)

gnomAD frequency: 0.00695  dbSNP: rs62639702

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000390088	SCV000395706	benign	Liddle syndrome 2	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000294984	SCV000395707	likely benign	Autosomal recessive pseudohypoaldosteronism type 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000602942	SCV000711351	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ser145Ser in exon 3 of SCNN1G: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.9% (38/4394) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs62639702).
Invitae	RCV000971805	SCV001119473	benign	not provided	2024-01-23	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000971805	SCV001145740	benign	not provided	2018-09-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000971805	SCV002504030	likely benign	not provided	2021-06-11	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV002495001	SCV002798830	likely benign	Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2	2021-07-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000971805	SCV004141295	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SCNN1G: BP4, BP7, BS2