ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) (rs199714523)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710136 SCV000343948 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Invitae RCV000464325 SCV000548509 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 152 of the FKRP protein (p.Ser152Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs199714523, ExAC 0.2%). This variant has been observed in an individual with Limb Girdle Muscular Dystrophy Type 2I (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 289565). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genetic Services Laboratory,University of Chicago RCV000408156 SCV000594779 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710136 SCV000613308 uncertain significance not provided 2019-05-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765452 SCV000896743 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 2018-10-31 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000710136 SCV000924797 uncertain significance not provided 2017-04-05 no assertion criteria provided provider interpretation
Natera, Inc. RCV001275311 SCV001460335 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2020-01-08 no assertion criteria provided clinical testing

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