ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.389T>A (p.Phe130Tyr)

gnomAD frequency: 0.00005  dbSNP: rs372823907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049619 SCV001213678 uncertain significance Early myoclonic encephalopathy 2024-11-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 130 of the JMJD1C protein (p.Phe130Tyr). This variant is present in population databases (rs372823907, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 846335). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
CeGaT Center for Human Genetics Tuebingen RCV003413847 SCV004125487 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing

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