ClinVar Miner

Submissions for variant NM_181840.1(KCNK18):c.414_415delCT (p.Phe139Trpfs) (rs869025175)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521319 SCV000617866 likely pathogenic not provided 2017-08-15 criteria provided, single submitter clinical testing The c.414_415delCT variant in the KCNK18 gene has been reported previously in multiple individuals from the same family with migraine with aura (Lafreniere et al., 2010). The c.414_415delCT variant causes a frameshift starting with codon Phenylalanine 139, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Phe139TrpfsX25. Functional studies have shown that the c.414_415delCT variant results in a loss of TRESK channel function (Lafreniere et al., 2010; Liu et al., 2013). The c.414_415delCT variant is observed in 63/66596 (0.1%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). We interpret c.414_415delCT as a likely pathogenic variant.
OMIM RCV000000011 SCV000020154 risk factor Migraine, with or without aura 13 2010-10-01 no assertion criteria provided literature only

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