ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6631A>G (p.Ile2211Val)

gnomAD frequency: 0.00001  dbSNP: rs748990512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366991 SCV001563320 uncertain significance Early myoclonic encephalopathy 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 2211 of the JMJD1C protein (p.Ile2211Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs748990512, ExAC 0.002%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV004036992 SCV003750230 uncertain significance not specified 2022-05-27 criteria provided, single submitter clinical testing The c.6631A>G (p.I2211V) alteration is located in exon 19 (coding exon 19) of the JMJD1C gene. This alteration results from a A to G substitution at nucleotide position 6631, causing the isoleucine (I) at amino acid position 2211 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003490227 SCV004235836 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing

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