Submissions for variant NM_001038.6(SCNN1A):c.978C>T (p.Asn326=)

gnomAD frequency: 0.01509  dbSNP: rs61731141

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000359208	SCV000380751	benign	Bronchiectasis with or without elevated sweat chloride 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	RCV000266859	SCV000380752	benign	Pseudohypoaldosteronism, type IB1, autosomal recessive	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000602567	SCV000711348	benign	not specified	2014-11-26	criteria provided, single submitter	clinical testing	p.Asn385Asn in exon 4 of SCNN1A: This variant is not expected to have clinical s ignificance because it has been identified in 4.7% (208/4406) of African America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs61731141).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000959256	SCV001106153	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000959256	SCV001875043	likely benign	not provided	2021-01-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000959256	SCV005213693	likely benign	not provided		criteria provided, single submitter	not provided