ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.640-3659G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003408466 SCV004112300 uncertain significance DNMT3A-related disorder 2023-06-01 criteria provided, single submitter clinical testing The DNMT3A c.183+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. Using an alternate transcript (NM_175629), this variant is a deep intronic variant (c.640-3659G>A) that is not predicted to impact splicing based on available prediction programs (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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