ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2288A>T (p.Tyr763Phe)

dbSNP: rs2038302856
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245981 SCV001419308 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2019-11-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DNMT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with phenylalanine at codon 763 of the DNMT1 protein (p.Tyr763Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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