ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1716_1717insC (p.Asn573fs)

dbSNP: rs1575467870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009280 SCV001169102 pathogenic not provided 2019-03-18 criteria provided, single submitter clinical testing The c.1716_1717insC variant in the SETD5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1716_1717insC variant causes a frameshift starting with codon Asparagine 573, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 40 of the new reading frame, denoted p.Asn573GlnfsX40. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1716_1717insC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1716_1717insC as a pathogenic variant.

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