ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3982C>G (p.Arg1328Gly)

gnomAD frequency: 0.00001  dbSNP: rs1336237703
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299817 SCV001488929 uncertain significance Early myoclonic encephalopathy 2022-03-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1003284). 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. This missense change has been observed in individual(s) with an autism spectrum disorder (PMID: 26181491). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1328 of the JMJD1C protein (p.Arg1328Gly). This variant is present in population databases (no rsID available, gnomAD 0.01%).

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