ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)

gnomAD frequency: 0.00001  dbSNP: rs104894682
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000725596 SCV000338011 pathogenic not provided 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV000471321 SCV000548504 pathogenic Walker-Warburg congenital muscular dystrophy 2021-08-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000501528 SCV000594787 likely pathogenic Muscular dystrophy-dystroglycanopathy 2017-04-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222339 SCV002500248 pathogenic Autosomal recessive limb-girdle muscular dystrophy 2022-03-01 criteria provided, single submitter clinical testing Variant summary: FKRP c.1486T>A (p.X496ArgextX21) changes the termination codon and is predicted to lead to an extended protein with additional amino acids added to the normal C-terminus. The variant allele was found at a frequency of 8.1e-06 in 245964 control chromosomes (gnomAD). c.1486T>A has been reported in the literature in multiple individuals affected with Limb-Girdle Muscular Dystrophy and vacuolar myopathy (examples: Driss_2003, Kefi_2008, Mair_2020, Walter_FKRP_2004). The variant also seggregated with disease. These data indicate that the variant is very likely to be associated with disease. Driss_2003 demonstrated that this variant reduced alpha dystroglycan and laminin levels in isolated muscle protein immmunoblots. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic (n=4) and likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000004444 SCV000024617 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I 2003-04-22 no assertion criteria provided literature only
PerkinElmer Genomics RCV000725596 SCV002023716 pathogenic not provided 2019-07-11 no assertion criteria provided clinical testing
Natera, Inc. RCV000004444 SCV002091359 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-09-09 no assertion criteria provided clinical testing

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