ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2584A>G (p.Ile862Val)

gnomAD frequency: 0.00004  dbSNP: rs376361926
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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 RCV001218130 SCV001390002 uncertain significance Early myoclonic encephalopathy 2022-07-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 862 of the JMJD1C protein (p.Ile862Val). This variant is present in population databases (rs376361926, gnomAD 0.01%). 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: 947129). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV004927666 SCV005602240 uncertain significance not specified 2024-09-12 criteria provided, single submitter clinical testing The c.2584A>G (p.I862V) alteration is located in exon 8 (coding exon 8) of the JMJD1C gene. This alteration results from a A to G substitution at nucleotide position 2584, causing the isoleucine (I) at amino acid position 862 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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