ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.7159C>G (p.Pro2387Ala)

gnomAD frequency: 0.00001  dbSNP: rs1217362752
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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 RCV001209178 SCV001380601 uncertain significance Early myoclonic encephalopathy 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2387 of the JMJD1C protein (p.Pro2387Ala). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 939734). 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 with a positive 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.
Ambry Genetics RCV004033759 SCV003533778 uncertain significance not specified 2022-05-10 criteria provided, single submitter clinical testing The c.7159C>G (p.P2387A) alteration is located in exon 23 (coding exon 23) of the JMJD1C gene. This alteration results from a C to G substitution at nucleotide position 7159, causing the proline (P) at amino acid position 2387 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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