ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2341C>T (p.Pro781Ser)

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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 RCV002913678 SCV003254943 uncertain significance Early myoclonic encephalopathy 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 781 of the JMJD1C protein (p.Pro781Ser). This variant is not present in population databases (gnomAD no frequency). 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 affected with JMJD1C-related conditions.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697241 SCV005198499 uncertain significance not provided 2023-05-22 criteria provided, single submitter clinical testing

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