ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.992C>T (p.Ser331Leu)

gnomAD frequency: 0.00006  dbSNP: rs781592121
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 RCV001052140 SCV001216336 uncertain significance Polyglucosan body myopathy type 1 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 331 of the RBCK1 protein (p.Ser331Leu). This variant is present in population databases (rs781592121, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with RBCK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 848393). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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 RCV002553742 SCV003711467 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.992C>T (p.S331L) alteration is located in exon 8 (coding exon 8) of the RBCK1 gene. This alteration results from a C to T substitution at nucleotide position 992, causing the serine (S) at amino acid position 331 to be replaced by a leucine (L). 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.