ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.901A>C (p.Lys301Gln)

gnomAD frequency: 0.00004  dbSNP: rs751183319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066190 SCV001231192 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2023-06-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DNMT1-related conditions. 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 859966). This variant is present in population databases (rs751183319, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 301 of the DNMT1 protein (p.Lys301Gln).

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