ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg)

dbSNP: rs1599376406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001299216 SCV001488296 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2020-10-29 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 C0"). 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 serine with arginine at codon 304 of the DNMT1 protein (p.Ser304Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002493577 SCV002791526 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2021-12-02 criteria provided, single submitter clinical testing

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