ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3694T>G (p.Leu1232Val)

dbSNP: rs1846855738
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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 RCV001342870 SCV001536818 uncertain significance Early myoclonic encephalopathy 2022-06-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1039407). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1232 of the JMJD1C protein (p.Leu1232Val).
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003314003 SCV004013365 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing PM2, PP3

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