ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.5644+9A>G

dbSNP: rs1275521352
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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 RCV001362406 SCV001558420 uncertain significance Early myoclonic encephalopathy 2022-11-22 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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. ClinVar contains an entry for this variant (Variation ID: 1053975). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This sequence change falls in intron 13 of the JMJD1C gene. It does not directly change the encoded amino acid sequence of the JMJD1C protein.

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