ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.2966_2967del (p.Asp988_Ser989insTer)

dbSNP: rs1064796772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481961 SCV000573832 pathogenic not provided 2017-03-07 criteria provided, single submitter clinical testing The c.2966_2967delCT variant in the ASXL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2966_2967delCT variant causes a frameshift resulting the replacement of codon Serine 989 with a premature Stop codon, denoted p.Ser989Ter. This variant is predicted to cause loss of normal protein function through protein truncation. The c.2966_2967delCT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2966_2967delCT as a pathogenic variant.

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