ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp)

gnomAD frequency: 0.00001  dbSNP: rs1372902099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058160 SCV001222708 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2022-11-07 criteria provided, single submitter clinical testing 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: "Possibly 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. ClinVar contains an entry for this variant (Variation ID: 853368). This variant has not been reported in the literature in individuals affected with DNMT1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 313 of the DNMT1 protein (p.Arg313Trp).
Fulgent Genetics, Fulgent Genetics RCV002482025 SCV002788779 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2021-08-10 criteria provided, single submitter clinical testing

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