ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.408C>T (p.Ala136=) (rs143551687)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000347845 SCV000341906 uncertain significance not provided 2016-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000347845 SCV000969748 likely benign not provided 2018-06-01 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000347845 SCV001433784 likely benign not provided 2018-05-27 criteria provided, single submitter clinical testing The p.Ala136Ala variant (rs143551687) does not alter the amino acid sequence of the SGCA protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.07 percent in the East Asian population (identified on 17 out of 25,998 chromosomes) and has been reported to the ClinVar database (Variation ID: 287947). Based on these observations, the p.Ala136Ala variant is likely to be benign.
Invitae RCV001426063 SCV001628708 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-11-04 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.