ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3104T>G (p.Phe1035Cys)

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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 RCV002918495 SCV003255680 uncertain significance Early myoclonic encephalopathy 2023-07-30 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. 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. ClinVar contains an entry for this variant (Variation ID: 2048035). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs756475530, gnomAD 0.003%). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1035 of the JMJD1C protein (p.Phe1035Cys).
Ambry Genetics RCV004632094 SCV005127352 uncertain significance not specified 2024-03-18 criteria provided, single submitter clinical testing The c.3104T>G (p.F1035C) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a T to G substitution at nucleotide position 3104, causing the phenylalanine (F) at amino acid position 1035 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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