Submissions for variant NM_032776.3(JMJD1C):c.4009G>T (p.Ala1337Ser)

gnomAD frequency: 0.00001  dbSNP: rs757261672

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001203462	SCV001374628	uncertain significance	Early myoclonic encephalopathy	2021-10-07	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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 934965). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs757261672, ExAC 0.001%). This sequence change replaces alanine with serine at codon 1337 of the JMJD1C protein (p.Ala1337Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine.
CeGaT Center for Human Genetics Tuebingen	RCV003413990	SCV004125477	uncertain significance	not provided	2022-07-01	criteria provided, single submitter	clinical testing	JMJD1C: PM2, BP4