ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.822C>G (p.Ile274Met) (rs77138370)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086481 SCV000290703 likely benign Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117039 SCV000314272 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117039 SCV000337230 benign not specified 2015-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000117039 SCV000519103 likely benign not specified 2017-10-18 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.
Athena Diagnostics Inc RCV000711666 SCV000842053 likely benign not provided 2017-09-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000711666 SCV000885460 likely benign not provided 2017-12-26 criteria provided, single submitter clinical testing Although the FKRP p.Ile274Met variant (rs77138370) has not been reported in the medical literature, it is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.88% in the African population (identified in 127 out of 14,360 chromosomes). This variant is also classified as benign/likely benign in ClinVar (Variant ID: 129058). The isoleucine at codon 274 is moderately conserved considering 11 species (Alamut software v2.10.0), and computational analyses predict conflicting effects of this variant on protein structure/function (SIFT: damaging, PolyPhen2: benign, MutationTaster: disease causing). Therefore, based on the available evidence, the p.Ile274Met variant is classified as likely benign.
Genetic Services Laboratory,University of Chicago RCV000117039 SCV000151165 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.