ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)

gnomAD frequency: 0.00001  dbSNP: rs963039919
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563923 SCV001786982 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563924 SCV001786983 uncertain significance Muscular dystrophy-dystroglycanopathy type B5 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563925 SCV001786984 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882663 SCV002209176 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 285 of the FKRP protein (p.Glu285Ala). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with FKRP-related conditions (PMID: 30919934). ClinVar contains an entry for this variant (Variation ID: 1199351). 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. 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.
Baylor Genetics RCV001563923 SCV005057801 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2023-11-27 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.