ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr)

dbSNP: rs1554944271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000515532 SCV000590955 likely pathogenic Intellectual disability, autosomal dominant 24 2015-10-02 criteria provided, single submitter clinical testing This missense variant has been observed once in our laboratory de novo in an 8-year-old female with intellectual disability, autism spectrum disorder, partial seizures, slight prenatal growth retardation, aggressive behavior, self-injurious behavior, mild low-frequency hearing loss, unilateral ear tag, congenital hip dislocation, slightly low cerebellar tonils, abnormal EEG.
Genetics and Molecular Pathology, SA Pathology RCV000515532 SCV002556771 pathogenic Intellectual disability, autosomal dominant 24 2021-05-25 criteria provided, single submitter clinical testing The DEAF1 c.737G>C variant is a single nucleotide change in exon 5 of the DEAF1 gene, which is predicted to change the amino acid arginine at position 246 in the protein to threonine. This variant is de novo in this individual (PS2) and has been reported in at least one other individual with autosomal dominant mental retardation 24 (PS4_supporting). Functional studies have shown reduced transcriptional repression activity and decreased binding to dsDNA compared with wild type (PS3_moderate; PMID:28940898). This variant has not been reported in dbSNP and is absent from population databases (PM2). This variant has been reported in ClinVar as likely pathogenic for mental retardation by another diagnostic laboratory (ClinVar Variation ID: 437396), and in HMGD as damaging for mental retardation 24 (CM171837). Computational predictions support a deleterious effect on the gene or gene product (PP3). The DEAF1 c.737G>C variant is classified as PATHOGENIC (PM2, PP3, PS2, PS3_moderate, PS4_supporting)

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