ClinVar Miner

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

gnomAD frequency: 0.00251  dbSNP: rs77138370
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001086481 SCV000290703 likely benign Walker-Warburg congenital muscular dystrophy 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117039 SCV000314272 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) 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 RCV000117039 SCV000842053 likely benign not specified 2023-10-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000711666 SCV000885460 likely benign not provided 2023-11-29 criteria provided, single submitter clinical testing
New York Genome Center RCV001836732 SCV002097986 uncertain significance Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2020-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426662 SCV002680934 benign Cardiovascular phenotype 2019-03-26 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117039 SCV005885364 likely benign not specified 2025-02-24 criteria provided, single submitter clinical testing Variant summary: FKRP c.822C>G (p.Ile274Met) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00069 in 114982 control chromosomes, predominantly at a frequency of 0.0096 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 4 fold of the estimated maximal expected allele frequency for a pathogenic variant in FKRP causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive phenotype (0.0024). To our knowledge, no occurrence of c.822C>G in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 129058). Based on the evidence outlined above, the variant was classified as likely benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000117039 SCV006067075 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000117039 SCV001967758 benign not specified no assertion criteria provided clinical testing

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