ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.349G>A (p.Val117Ile)

dbSNP: rs1855320026
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314619 SCV001505155 uncertain significance Early myoclonic encephalopathy 2022-03-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1015717). This missense change has been observed in individual(s) with clinical features of JMJD1C-related conditions (PMID: 31954878). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 117 of the JMJD1C protein (p.Val117Ile).

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