ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.5072A>G (p.Asn1691Ser)

gnomAD frequency: 0.00001  dbSNP: rs1483008499
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796756 SCV000936282 uncertain significance Early myoclonic encephalopathy 2023-05-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1691 of the JMJD1C protein (p.Asn1691Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with developmental delay (PMID: 31954878). ClinVar contains an entry for this variant (Variation ID: 643122). 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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