ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1441-2A>G

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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 RCV001253799 SCV001427096 likely pathogenic Mental retardation, autosomal dominant 23 2019-10-30 no assertion criteria provided clinical testing The c.1441-2A>G variant in the SETD5 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 c.1441-2A>G variant alters the canonical acceptor splice site in intron 12, which is predicted to result in abnormal gene splicing. Heterozygous loss of function is an established mechanism of disease for the SETD5 gene. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, there is sufficient evidence to classify the c.1441- 2A>G variant as likely pathogenic for autosomal dominant SETD5-associated neurodevelopmental disorder based on the information above. [ACMG evidence codes used: PVS1_Strong; PM2; PS2_Supporting]

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