ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) (rs35193202)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000214533 SCV000278982 likely benign not specified 2018-01-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000407593 SCV000373776 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000726894 SCV000642299 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726894 SCV000703937 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000726894 SCV000885603 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing The p.Ala398Val variant (rs35193202) was reported in one patient from a cohort selected for inherited peripheral neuropathy (Antoniadi 2015). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.4 percent in the European Finnish population (identified on 93 out of 25,414 chromosomes, including 1 homozygote) and has been reported to the ClinVar database (Variation ID: 234315). Given the abundance in the general population, the p.Ala398Val variant is considered to be likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726894 SCV001148362 likely benign not provided 2018-10-01 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.