ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.103C>T (p.Arg35Ter)

dbSNP: rs79181358
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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 RCV001917310 SCV002150760 uncertain significance Early myoclonic encephalopathy 2022-07-05 criteria provided, single submitter clinical testing 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 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: 1380774). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This sequence change creates a premature translational stop signal (p.Arg35*) in the JMJD1C gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in JMJD1C cause disease.

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