ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) (rs199714523)

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
Athena Diagnostics Inc RCV000710136 SCV000613308 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710136 SCV000343948 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765452 SCV000896743 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000408156 SCV000594779 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV000464325 SCV000548509 uncertain significance Walker-Warburg congenital muscular dystrophy 2018-12-31 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 152 of the FKRP protein (p.Ser152Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. While this variant is present in population databases (rs199714523), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a FKRP-related disease. ClinVar contains an entry for this variant (Variation ID: 289565). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000710136 SCV000924797 uncertain significance not provided 2017-04-05 no assertion criteria provided provider interpretation

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.