ClinVar Miner

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

gnomAD frequency: 0.01509  dbSNP: rs61731141
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Total submissions: 5
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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 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 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).
Invitae 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

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