ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1314_1315del (p.Arg438fs)

dbSNP: rs1555889069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599466 SCV000710278 pathogenic not provided 2017-12-15 criteria provided, single submitter clinical testing The c.1314_1315delAG variant in the KCNB1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1314_1315delAG variant causes a frameshift starting with codon Arginine 438, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Arg438SerfsX21. This variant is predicted to cause loss of normal protein function through protein truncation. Thec.1314_1315delAG variant is not observed in large population cohorts (Lek et al., 2016). Weinterpret c.1314_1315delAG as a pathogenic variant.

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