ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp)

gnomAD frequency: 0.00006  dbSNP: rs767801199
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
Invitae RCV000698660 SCV000827340 uncertain significance Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2023-06-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LMNB2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 248 of the LMNB2 protein (p.Arg248Trp). ClinVar contains an entry for this variant (Variation ID: 576218). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LMNB2 protein function.
New York Genome Center RCV001836865 SCV002097728 uncertain significance Progressive myoclonic epilepsy type 9 2021-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163229 SCV003881591 uncertain significance Inborn genetic diseases 2023-01-10 criteria provided, single submitter clinical testing The c.682C>T (p.R228W) alteration is located in exon 5 (coding exon 5) of the LMNB2 gene. This alteration results from a C to T substitution at nucleotide position 682, causing the arginine (R) at amino acid position 228 to be replaced by a tryptophan (W). 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.