ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.997G>A (p.Glu333Lys)

gnomAD frequency: 0.00001  dbSNP: rs748515801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001322444 SCV001513315 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2022-02-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). ClinVar contains an entry for this variant (Variation ID: 1022524). This variant has not been reported in the literature in individuals affected with DNMT1-related conditions. This variant is present in population databases (rs748515801, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 333 of the DNMT1 protein (p.Glu333Lys).
GeneDx RCV003106192 SCV003761875 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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