ClinVar Miner

Submissions for variant NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)

dbSNP: rs104894345
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002472922 SCV002771009 pathogenic not provided 2022-04-06 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant segregates with Charcot-Marie-Tooth disease in at least one family. Assessment of experimental evidence suggests this variant results in abnormal protein function. Knock-in mice displayed a phenotype similar to Charcot-Marie-Tooth disease (PMID: 25206829, 28780615). Additionally, motor neurons expressing this variant exhibited neurite degeneration (PMID: 20538880). Further studies also showed that this variant leads to decreased binding to BAG3 (PMID: 20858900), but increased binding to HSPB1 and the formation of intracellular aggregates (PMID: 15122253, 20157854).
OMIM RCV000002737 SCV000022895 pathogenic Charcot-Marie-Tooth disease axonal type 2L 2005-02-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000192250 SCV000929353 uncertain significance Charcot-Marie-Tooth disease 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.