Submissions for variant NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr)

gnomAD frequency: 0.17402  dbSNP: rs11542844

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151812	SCV000200279	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ala393Thr in exon 5 of SCNN1A: This variant is not expected to have clinical sig nificance because it has been identified in 44.8% (1975/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs11542844).
PreventionGenetics, part of Exact Sciences	RCV000151812	SCV000306087	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000271641	SCV000380749	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	RCV000310345	SCV000380750	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.
GeneDx	RCV001651019	SCV001863920	benign	not provided	2019-08-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19462466, 27582106)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001651019	SCV002343012	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001651019	SCV005236832	benign	not provided		criteria provided, single submitter	not provided