ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4704G>A (p.Met1568Ile)

dbSNP: rs775870728
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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 RCV001044973 SCV001208799 uncertain significance Early myoclonic encephalopathy 2020-10-06 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 1568 of the JMJD1C protein (p.Met1568Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with JMJD1C-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database.

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