ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) (rs1301397800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671168 SCV000796118 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-12-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731349 SCV000859155 pathogenic not provided 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000634073 SCV000755351 uncertain significance Walker-Warburg congenital muscular dystrophy 2017-12-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 478 of the FKRP protein (p.Ile478Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in an individual affected with congenital muscular dystrophy (PMID: 16476814) and in combination with another FKRP variant in 3 individuals from a single family affected with limb-girdle muscular dystrophy (PMID: 18639457). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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