ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3202A>G (p.Met1068Val)

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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 RCV003602534 SCV004455788 uncertain significance Early myoclonic encephalopathy 2023-05-22 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. 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. This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs375717203, gnomAD 0.02%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1068 of the JMJD1C protein (p.Met1068Val).
Ambry Genetics RCV004634322 SCV005127361 uncertain significance not specified 2024-04-20 criteria provided, single submitter clinical testing The c.3202A>G (p.M1068V) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a A to G substitution at nucleotide position 3202, causing the methionine (M) at amino acid position 1068 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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