ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.1406A>G (p.Tyr469Cys)

gnomAD frequency: 0.00001  dbSNP: rs1456216460
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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 RCV001969448 SCV002267501 uncertain significance Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2021-11-08 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 469 of the DNMT3B protein (p.Tyr469Cys). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DNMT3B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003264354 SCV003944868 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The c.1406A>G (p.Y469C) alteration is located in exon 14 (coding exon 13) of the DNMT3B gene. This alteration results from a A to G substitution at nucleotide position 1406, causing the tyrosine (Y) at amino acid position 469 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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