ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)

gnomAD frequency: 0.00006  dbSNP: rs144689354
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000433567 SCV000337716 likely pathogenic not provided 2016-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000433567 SCV000521279 pathogenic not provided 2021-08-30 criteria provided, single submitter clinical testing Previously reported in two unrelated individuals who underwent whole genome sequencing to identify candidate genes in cohorts of patients with autism spectrum disorders; however limited clinical information is available on the probands, and in one proband a second de novo variant in another gene was also identified (Jiang et al., 2013; Yuen et al., 2016); Published functional studies suggest this variant significantly disrupts catalytic activity of DNMT3a (Khrabrova et al., 2019); This variant is associated with the following publications: (PMID: 22077061, 23370706, 26874914, 32269971, 31332282, 21904384, 23507483, 27525107, 28263302, 31981491, 32355762, 33219223, 23849776, 31861499)
Invitae RCV000367312 SCV000815919 uncertain significance Tatton-Brown-Rahman overgrowth syndrome 2021-08-31 criteria provided, single submitter clinical testing
Molecular Genetics Lab, CHRU Brest RCV003883148 SCV004697760 likely pathogenic Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Jackson syndrome criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000433567 SCV005197762 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing
GenomeConnect - Brain Gene Registry RCV003313065 SCV004012824 not provided Autism spectrum disorder; Tatton-Brown-Rahman overgrowth syndrome no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 09-13-2021 by Lab GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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