ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1916G>A (p.Ser639Asn)

dbSNP: rs747581671
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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 RCV001302359 SCV001491565 uncertain significance Early myoclonic encephalopathy 2023-04-15 criteria provided, single submitter clinical testing This variant is present in population databases (rs747581671, gnomAD 0.006%). 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1005478). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 639 of the JMJD1C protein (p.Ser639Asn).

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