ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3250G>A (p.Val1084Met)

gnomAD frequency: 0.00002  dbSNP: rs200952020
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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 RCV001204781 SCV001376002 uncertain significance Early myoclonic encephalopathy 2022-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 936058). This variant is present in population databases (rs200952020, gnomAD 0.03%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1084 of the JMJD1C protein (p.Val1084Met).
Ambry Genetics RCV004033628 SCV004889522 uncertain significance not specified 2023-10-10 criteria provided, single submitter clinical testing The c.3250G>A (p.V1084M) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a G to A substitution at nucleotide position 3250, causing the valine (V) at amino acid position 1084 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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