ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3067C>T (p.Arg1023Cys)

gnomAD frequency: 0.00021  dbSNP: rs369312790
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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 RCV001221176 SCV001393202 uncertain significance Early myoclonic encephalopathy 2023-07-10 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt JMJD1C protein function. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1023 of the JMJD1C protein (p.Arg1023Cys). This variant is present in population databases (rs369312790, gnomAD 0.05%). 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: 949667). 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.
Ambry Genetics RCV004032409 SCV004889521 uncertain significance not specified 2024-01-23 criteria provided, single submitter clinical testing The c.3067C>T (p.R1023C) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a C to T substitution at nucleotide position 3067, causing the arginine (R) at amino acid position 1023 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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