ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6851G>A (p.Ser2284Asn)

gnomAD frequency: 0.00001  dbSNP: rs375772458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372132 SCV001568737 uncertain significance Early myoclonic encephalopathy 2023-08-24 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. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 2284 of the JMJD1C protein (p.Ser2284Asn). This variant is present in population databases (rs375772458, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 1062419). 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 not expected to disrupt JMJD1C protein function.
Ambry Genetics RCV004037523 SCV003649453 uncertain significance not specified 2022-10-25 criteria provided, single submitter clinical testing The c.6851G>A (p.S2284N) alteration is located in exon 21 (coding exon 21) of the JMJD1C gene. This alteration results from a G to A substitution at nucleotide position 6851, causing the serine (S) at amino acid position 2284 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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