ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2240C>T (p.Thr747Ile)

gnomAD frequency: 0.00001  dbSNP: rs1157995731
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839206 SCV002099154 uncertain significance JMJD1C-associated Neurodevelopmental Disorder 2021-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003600422 SCV004481197 uncertain significance Early myoclonic encephalopathy 2023-03-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 747 of the JMJD1C protein (p.Thr747Ile). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt JMJD1C protein function. ClinVar contains an entry for this variant (Variation ID: 1342455). 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).

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