ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.772C>T (p.Arg258Cys)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002907861 SCV003243943 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-06-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DNAJB6-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 258 of the DNAJB6 protein (p.Arg258Cys). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004973683 SCV005578288 uncertain significance Inborn genetic diseases 2024-08-14 criteria provided, single submitter clinical testing The c.772C>T (p.R258C) alteration is located in exon 9 (coding exon 8) of the DNAJB6 gene. This alteration results from a C to T substitution at nucleotide position 772, causing the arginine (R) at amino acid position 258 to be replaced by a cysteine (C). 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.