ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile)

gnomAD frequency: 0.00089  dbSNP: rs72654357
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289234 SCV001476917 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing
GeneDx RCV001289234 SCV001826767 uncertain significance not provided 2020-08-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001289234 SCV002189918 likely benign not provided 2024-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035568 SCV004946094 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.1888G>A (p.V630I) alteration is located in exon 13 (coding exon 12) of the SCNN1B gene. This alteration results from a G to A substitution at nucleotide position 1888, causing the valine (V) at amino acid position 630 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.