ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.559G>A (p.Gly187Ser) (rs1187674499)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000766040 SCV000897479 uncertain significance Dilated cardiomyopathy 1X; Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000521466 SCV000618539 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing The G187S variant in the FKTN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G187S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G187S 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. Additionally, a missense variant in a nearby residue (H186R) has been reported as a homozygous finding in an individual with Walker-Warburg syndrome (Manzini et al., 2008), supporting the functional importance of this region of the protein. We interpret G187S as a variant of uncertain significance.

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