ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1557+1G>T

dbSNP: rs1569540382
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lifecell International Pvt. Ltd RCV000012577 SCV003914724 pathogenic Dent disease type 1 criteria provided, single submitter clinical testing A Hemizygote, Splice site donor variant c.1347+1G>T in Exon 8 of the CLCN5 gene that results in the amino acid substitution was identified. The observed variant is novel in gnomAD exomes. The severity of the impact of this variant on the protein is high, based on the effect of the protein and REVEL score . Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease-causing. ClinVar has also classified this variant as Pathogenic (Variant ID: 18451). This variant has been previous reported in association with Dent disease by Tosetto E et al., 2009. Based on the above evidence this variant has been classified as Pathogenic according to the ACMG guidelines.
OMIM RCV000012577 SCV000032811 pathogenic Dent disease type 1 2009-10-01 no assertion criteria provided literature only

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.