Submissions for variant NM_032776.3(JMJD1C):c.4079A>T (p.Asn1360Ile)

dbSNP: rs1589148092

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000801385	SCV000941159	uncertain significance	Early myoclonic encephalopathy	2022-12-28	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 646992). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt JMJD1C protein function. This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1360 of the JMJD1C protein (p.Asn1360Ile).
PreventionGenetics, part of Exact Sciences	RCV003413602	SCV004108924	uncertain significance	JMJD1C-related disorder	2023-06-07	criteria provided, single submitter	clinical testing	The JMJD1C c.4079A>T variant is predicted to result in the amino acid substitution p.Asn1360Ile. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.