ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.2246C>A (p.Ser749Ter)

dbSNP: rs2146082310
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037908 SCV002228086 pathogenic Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2021-11-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DNMT3B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser749*) in the DNMT3B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNMT3B are known to be pathogenic (PMID: 11102980).

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