ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2097dup (p.Lys700fs)

dbSNP: rs1575472601
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008317 SCV001168085 pathogenic not provided 2018-08-28 criteria provided, single submitter clinical testing The c.2097dupC variant in the SETD5 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.2097dupC variant causes a frameshift starting with codon Lysine 700, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Lys700GlnfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, this variant is apparently de novo in an individual previously tested at GeneDx. Therefore, we interpret c.2097dupC as a pathogenic variant.

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