ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe)

gnomAD frequency: 0.02955  dbSNP: rs3741913
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174501 SCV000225813 benign not specified 2015-03-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000174501 SCV000269799 benign not specified 2016-02-15 criteria provided, single submitter clinical testing p.Cys677Phe in exon 12 of SCNN1A: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 12.4% (695/5600) of African chromosomes, including 28 ho mozygotes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs3741913).
PreventionGenetics, part of Exact Sciences RCV000174501 SCV000306089 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339865 SCV000380719 benign Bronchiectasis with or without elevated sweat chloride 2 2017-04-27 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000378232 SCV000380720 benign Pseudohypoaldosteronism, type IB1, autosomal recessive 2017-04-27 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001636709 SCV001849542 benign not provided 2019-12-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16249274)
Labcorp Genetics (formerly Invitae), Labcorp RCV001636709 SCV003243878 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636709 SCV005236824 benign not provided criteria provided, single submitter not provided

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