ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2902C>T (p.Arg968Trp)

gnomAD frequency: 0.00002  dbSNP: rs745565258
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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 RCV001965493 SCV002221358 uncertain significance Early myoclonic encephalopathy 2021-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 968 of the JMJD1C protein (p.Arg968Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs745565258, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. 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"). 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 RCV004043093 SCV004068315 uncertain significance not specified 2023-08-21 criteria provided, single submitter clinical testing The c.2902C>T (p.R968W) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a C to T substitution at nucleotide position 2902, causing the arginine (R) at amino acid position 968 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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