ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.4219-1G>A

gnomAD frequency: 0.00006  dbSNP: rs748854592
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000604175 SCV000712640 pathogenic Rare genetic deafness 2016-11-03 criteria provided, single submitter clinical testing The c.4219-1G>A variant in STRC has not been previously reported in individuals with hearing loss but was identified in 3/49276 European chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs74885459 2). However, this frequency is low enough to be consistent with a recessive carr ier frequency. This variant occurs in the invariant region (+/- 1/2) of the spli ce consensus sequence and is predicted to cause altered splicing leading to an a bnormal or absent protein. Loss of function of the STRC gene is an established d isease mechanism in autosomal recessive nonsyndromic hearing loss. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessi ve hearing loss based on the predicted impact of the variant.
Fulgent Genetics, Fulgent Genetics RCV000763351 SCV000894041 likely pathogenic Deafness-infertility syndrome; Autosomal recessive nonsyndromic hearing loss 16; Spermatogenic failure 7 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467922 SCV002762977 likely pathogenic Autosomal recessive nonsyndromic hearing loss 16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480711 SCV004225750 likely pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing PM2, PVS1

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.