ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.735del (p.Ala246fs)

dbSNP: rs1553414406
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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 RCV000549667 SCV000655301 pathogenic Tatton-Brown-Rahman overgrowth syndrome 2018-10-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DNMT3A are known to be pathogenic (PMID: 24614070). This variant has not been reported in the literature in individuals with DNMT3A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala246Leufs*70) in the DNMT3A gene. It is expected to result in an absent or disrupted protein product.

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