ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.5854G>A (p.Val1952Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004282628 SCV003907769 uncertain significance not specified 2023-03-02 criteria provided, single submitter clinical testing The c.5854G>A (p.V1952I) alteration is located in exon 15 (coding exon 15) of the JMJD1C gene. This alteration results from a G to A substitution at nucleotide position 5854, causing the valine (V) at amino acid position 1952 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003497981 SCV004337943 uncertain significance Early myoclonic encephalopathy 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1952 of the JMJD1C protein (p.Val1952Ile). This variant is present in population databases (rs778331836, gnomAD 0.004%). 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: 2493086). 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 with a negative predictive value of 80%. 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.

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