ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4045G>A (p.Gly1349Arg)

gnomAD frequency: 0.00001  dbSNP: rs777175851
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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 RCV000816425 SCV000956933 uncertain significance Early myoclonic encephalopathy 2023-01-22 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 not expected to disrupt JMJD1C protein function. ClinVar contains an entry for this variant (Variation ID: 659420). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs777175851, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1349 of the JMJD1C protein (p.Gly1349Arg). 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 RCV004028889 SCV004051901 uncertain significance not specified 2023-08-14 criteria provided, single submitter clinical testing The c.4045G>A (p.G1349R) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a G to A substitution at nucleotide position 4045, causing the glycine (G) at amino acid position 1349 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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