ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)

gnomAD frequency: 0.00017  dbSNP: rs149466797
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724332 SCV000225427 uncertain significance not provided 2014-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000724332 SCV000491946 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the BSCL2 gene. The R392H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 32/30780 (0.1%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). The R392H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445495 SCV000537081 uncertain significance Monogenic diabetes 2015-12-04 criteria provided, single submitter research ACMG Criteria: PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV001086117 SCV000775905 likely benign Charcot-Marie-Tooth disease type 2 2025-01-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000724332 SCV001475546 uncertain significance not provided 2020-03-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847805 SCV002106250 uncertain significance Hereditary spastic paraplegia 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326952 SCV002629234 likely benign Inborn genetic diseases 2022-05-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000724332 SCV003830190 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003884374 SCV004698137 uncertain risk allele Congenital generalized lipodystrophy type 2 criteria provided, single submitter research Potent mutations in BSCL2 gene are associated with Congenital generalized lipodystrophy, type 2, which can present with insulin resistance, fatty liver and diabetes.However, the role of this particular variant rs149466797 of Congenital Generalized Lipodystrophy type 2 remains uncertain
Mayo Clinic Laboratories, Mayo Clinic RCV000724332 SCV005412346 uncertain significance not provided 2024-03-22 criteria provided, single submitter clinical testing

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.