ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.549C>T (p.Gly183=)

gnomAD frequency: 0.06659  dbSNP: rs5737
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151821 SCV000200288 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gly183Gly 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 6.9% (596/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs5737).
Preventiongenetics, part of Exact Sciences RCV000151821 SCV000306098 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387398 SCV000395720 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.
Illumina Laboratory Services, Illumina RCV000293041 SCV000395721 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.
Athena Diagnostics Inc RCV000713391 SCV000843992 benign not provided 2017-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000713391 SCV001856347 benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Invitae RCV000713391 SCV003221619 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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