ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.614C>T (p.Ser205Leu)

gnomAD frequency: 0.00001  dbSNP: rs781646588
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728320 SCV000855875 uncertain significance not provided 2017-07-21 criteria provided, single submitter clinical testing
Invitae RCV001236660 SCV001409393 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 205 of the DNMT1 protein (p.Ser205Leu). This variant is present in population databases (rs781646588, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with DNMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 593317). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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