ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.781-9T>C (rs370564232)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519082 SCV000616721 uncertain significance not provided 2017-07-06 criteria provided, single submitter clinical testing The c.781-9 T>C variant has not beenpublished as pathogenic or been reported as benign to our knowledge. Furthermore, this variant is not observed at asignificant frequency in large population cohorts, and no homozygous individuals have been reported (Lek et al.,2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this substitution occurs at anintronic nucleotide position that is not conserved across species, in silico analysis predicts this variant destroys theweak natural splice acceptor site of intron 7, which may result in abnormal gene splicing. Two other non-canonicalsplice site variants in the FKTN gene have been reported in HGMD in association with disease (Stenson et al.,2014). However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot beprecisely determined.
Invitae RCV000634085 SCV000755363 likely benign Walker-Warburg congenital muscular dystrophy 2017-08-15 criteria provided, single submitter clinical testing

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