ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4999G>T (p.Asp1667Tyr)

dbSNP: rs779931368
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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 RCV001869630 SCV002248855 uncertain significance Early myoclonic encephalopathy 2022-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JMJD1C-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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1334685). This variant is present in population databases (rs779931368, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1667 of the JMJD1C protein (p.Asp1667Tyr).
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814866 SCV002061751 uncertain significance not provided 2021-12-14 no assertion criteria provided clinical testing Gene of uncertain significance

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