ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4169C>T (p.Thr1390Met)

gnomAD frequency: 0.00001  dbSNP: rs747375729
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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 RCV000688005 SCV000815601 uncertain significance Early myoclonic encephalopathy 2019-09-14 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with JMJD1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 567823). This variant is present in population databases (rs747375729, ExAC 0.006%). This sequence change replaces threonine with methionine at codon 1390 of the JMJD1C protein (p.Thr1390Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. 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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