ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.3266_3267del (p.Ser1089fs)

dbSNP: rs1064796348
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479034 SCV000572972 pathogenic not provided 2017-02-16 criteria provided, single submitter clinical testing The c.3266_3267delCT pathogenic variant in the SETD5 gene causes a frameshift starting with codon Serine 1089, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Ser1089CysfsX16. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3266_3267delCT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Other frameshift and loss of function variants in SETD5 have been reported in association with intellectual disability in the Human Gene Mutation Database (Stenson et al., 2014).

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