ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.941C>T (p.Thr314Met) (rs398124395)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000178344 SCV000255778 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2014-09-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082183 SCV000230409 pathogenic not provided 2016-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000082183 SCV000196821 pathogenic not provided 2018-09-18 criteria provided, single submitter clinical testing The T314M pathogenic variant in the FKRP gene has been reported previously in the homozygous state in multiple individuals with limb girdle muscular dystrophy from several families of Saudi Arabian ancestry (Boyden et al., 2010; Monies et al., 2016). The T314M variant was not observed in approximately 5,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T314M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T314M as a pathogenic variant.
Institute of Human Genetics,Klinikum rechts der Isar RCV000178344 SCV000680237 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-11-08 criteria provided, single submitter clinical testing

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