ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.76TAC[2] (p.Tyr28del)

dbSNP: rs1554731028
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518924 SCV000618881 uncertain significance not provided 2017-07-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FKTN gene. The c.82_84delTAC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.82_84delTAC variant is not observed in large population cohorts (Lek et al., 2016). The c.82_84delTAC variant results in an in-frame deletion of a single tyrosine (Y) residue, denoted p.Y28del. This variant occurs at a position that is conserved in mammals. However, in-frame deletions and duplications have not been reported at nearby residues in the Human Gene Mutation Database in association with FKTN-related disorders (Stenson et al., 2014).

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