ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2113dup (p.Thr705fs)

dbSNP: rs1575475545
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009152 SCV001168968 pathogenic not provided 2018-11-29 criteria provided, single submitter clinical testing The c.2113dupA 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.2113dupA variant causes a frameshift starting with codon Threonine 705, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Thr705AsnfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret c.2113dupA as a pathogenic variant.

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