ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6410A>C (p.Glu2137Ala)

dbSNP: rs369068631
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839133 SCV002099053 uncertain significance JMJD1C-associated Neurodevelopmental Disorder 2021-02-19 criteria provided, single submitter clinical testing The inherited heterozygous c.6410A>C (p.Glu2137Ala) missense variant identified in the JMJD1C gene has not been reported in affected individual in the literature. The variant is absent from the gnomAD database suggesting it is not a common benign variant in populations represented in that database. The variant affects a weakly conserved residue and in silico tools provide conflicting predictions about potential pathogenicity of this variant. Functional studies to evaluate the potential consequencesof this variant have not been reported. Based on the available evidence, the inherited heterozygous c.6410A>C (p.Glu2137Ala) missense variant identified in the JMJD1C gene is reported as a variant of uncertain significance.

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