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 2023-07-26 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 846335). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs372823907, gnomAD 0.01%). 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).
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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