ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.2236G>A (p.Val746Met)

gnomAD frequency: 0.00009  dbSNP: rs139777286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236189 SCV001408902 likely benign Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563849 SCV003715019 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.2236G>A (p.V746M) alteration is located in exon 21 (coding exon 20) of the DNMT3B gene. This alteration results from a G to A substitution at nucleotide position 2236, causing the valine (V) at amino acid position 746 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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