ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.4819G>A (p.Glu1607Lys)

dbSNP: rs1568217087
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700930 SCV000829707 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2022-07-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 578040). This variant has not been reported in the literature in individuals affected with DNMT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1607 of the DNMT1 protein (p.Glu1607Lys). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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