ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) (rs144748043)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725152 SCV000334512 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000319454 SCV000620094 uncertain significance not specified 2017-08-18 criteria provided, single submitter clinical testing The A217T variant in the POMT2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A217T variant is observed in 36/9790 (0.37%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The A217T 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A217T as a variant of uncertain significance.
Invitae RCV000648190 SCV000770004 likely benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2017-10-17 criteria provided, single submitter clinical testing

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