ClinVar Miner

Submissions for variant NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001254611 SCV001430627 likely pathogenic Intellectual disability, autosomal recessive 66 2020-05-28 criteria provided, single submitter clinical testing This multi-exon deletion of C12orf4 is rare (<0.1%) in a large population dataset and has an entry in DGV. This deletion affects exons 7 and 8 of the C12orf4 gene and includes a 6-bp insertion (TTATGA) at the deletion breakpoint that introduces an in-frame stop codon. This variant has been reported in a homozygous state in a single patient with autosomal recessive intellectual disability. We consider this deletion to be likely pathogenic.

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