ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2275A>G (p.Thr759Ala)

gnomAD frequency: 0.00002  dbSNP: rs1311396036
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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 RCV003061385 SCV003459141 uncertain significance Early myoclonic encephalopathy 2022-01-17 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 759 of the JMJD1C protein (p.Thr759Ala). This variant is present in population databases (no rsID available, gnomAD 0.007%).
Ambry Genetics RCV004071700 SCV003669603 uncertain significance not specified 2022-12-19 criteria provided, single submitter clinical testing The c.2275A>G (p.T759A) 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 2275, causing the threonine (T) at amino acid position 759 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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