Submissions for variant NM_032776.3(JMJD1C):c.2042T>A (p.Leu681Gln)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001203457	SCV001374623	uncertain significance	Early myoclonic encephalopathy	2022-07-19	criteria provided, single submitter	clinical testing	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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 934960). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 681 of the JMJD1C protein (p.Leu681Gln). 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.
Revvity Omics, Revvity	RCV003490118	SCV004235833	uncertain significance	not provided	2021-02-09	criteria provided, single submitter	clinical testing

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