ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1215_1226del (p.Asp406_Val409del) (rs1554766855)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664715 SCV000788721 uncertain significance Fukuyama congenital muscular dystrophy 2017-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000498658 SCV000589562 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FKTN gene. The c.1215_1226del12 variant has been reported in a female infant of Greek and Croatian ancestry, who was diagnosed with Walker-Warburg syndrome and also harbored the R47X variant in the FKTN gene and the R95C variant in the FKRP gene (Yis et al., 2011). Parental testing revealed that the c.1215_1226del12 variant in the FKTN gene was maternally inherited, and the R47X variant in the FKTN gene reportedly occurred de novo in this infant (Yis et al., 2011); although parental identity testing and/or additional studies to confirm whether the two FKTN variants were on the same or opposite alleles were not reported. The c.1215_1226del12 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1215_1226del12 variant results in the in-frame deletion of four amino acids, from aspartic acid (D) 406 to valine (V) 409, denoted p.Asp406_Val409del. However, no other in-frame deletions have been reported in HGMD in association with FKTN-related disorders (Stenson et al., 2014). Furthermore, in the absence of functional expression studies, the physiological consequence of this variant cannot be precisely determined.

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