ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.382G>A (p.Val128Ile)

gnomAD frequency: 0.00001  dbSNP: rs779787975
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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 RCV001065912 SCV001230902 uncertain significance Early myoclonic encephalopathy 2019-12-08 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 128 of the JMJD1C protein (p.Val128Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs779787975, ExAC 0.01%). This variant has not been reported in the literature in individuals with JMJD1C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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