ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086481 SCV000290703 likely benign Walker-Warburg congenital muscular dystrophy 2020-12-04 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 RCV000711666 SCV000519103 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27142102)
Athena Diagnostics Inc RCV000117039 SCV000842053 likely benign not specified 2021-05-18 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.
Clinical Genetics,Academic Medical Center RCV000117039 SCV001919919 benign not specified no assertion criteria provided clinical testing

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