ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3383C>T (p.Ala1128Val)

gnomAD frequency: 0.00004  dbSNP: rs745461131
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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 RCV000794165 SCV000933555 uncertain significance Early myoclonic encephalopathy 2023-12-28 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1128 of the JMJD1C protein (p.Ala1128Val). This variant is present in population databases (rs745461131, gnomAD 0.02%). 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: 641021). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004027472 SCV004067200 uncertain significance not specified 2023-08-14 criteria provided, single submitter clinical testing The c.3383C>T (p.A1128V) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a C to T substitution at nucleotide position 3383, causing the alanine (A) at amino acid position 1128 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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