ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4579A>G (p.Ile1527Val)

gnomAD frequency: 0.00007  dbSNP: rs371764552
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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 RCV000815356 SCV000955805 uncertain significance Early myoclonic encephalopathy 2023-02-27 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. 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. ClinVar contains an entry for this variant (Variation ID: 658518). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1527 of the JMJD1C protein (p.Ile1527Val). This variant is present in population databases (rs371764552, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions.
Ambry Genetics RCV004028852 SCV004889525 uncertain significance not specified 2023-12-18 criteria provided, single submitter clinical testing The c.4579A>G (p.I1527V) 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 4579, causing the isoleucine (I) at amino acid position 1527 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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