ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) (rs104894682)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725596 SCV000338011 pathogenic not provided 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV000471321 SCV000548504 pathogenic Walker-Warburg congenital muscular dystrophy 2016-04-06 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the FKRP mRNA. It is expected to extend the length of the FKRP protein by 21 additional amino acid residues. This variant is present in population databases (rs104894682, ExAC 0.003%). This variant has been identified in the homozygous state in all affected members of a large family with limb girdle muscular dystrophy (PMID: 10838249, 12707439). In addition, this variant has been observed on the opposite chromosome (in trans) from pathogenic variants in several unrelated families individual affected with limb girdle muscular dystrophy (PMID: 15060126, 18671187). ClinVar contains an entry for this variant (Variation ID: 4223). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000501528 SCV000594787 likely pathogenic Muscular dystrophy-dystroglycanopathy 2017-04-13 criteria provided, single submitter clinical testing
OMIM RCV000004444 SCV000024617 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2003-04-22 no assertion criteria provided literature only

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