ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2591del (p.Asn864fs) (rs2077088526)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Program, Stanford Medicine RCV001253770 SCV001427062 pathogenic Koolen-de Vries syndrome 2019-06-17 no assertion criteria provided clinical testing The p.Asn864Thrfs*14 variant in the KANSL1 gene was identified de novo in this individual but has not been previously reported in association with disease. This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The p.Asn864Thrfs*14 variant results in a 1bp deletion, which causes a shift in the protein reading frame, leading to a premature termination codon 14 amino acids downstream. Heterozygous loss of function is an established mechanism of disease for the KANSL1 gene. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, there is sufficient evidence to classify the p.Asn864Thrfs*14 variant as pathogenic for autosomal dominant KANSL1-related intellectual disability syndrome based on the information above. [ACMG evidence codes used: PVS1; PS2_moderate; PM2].

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