ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1699A>G (p.Ser567Gly)

dbSNP: rs1847733980
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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 RCV001045876 SCV001209750 uncertain significance Early myoclonic encephalopathy 2022-07-12 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine 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: 843285). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 567 of the JMJD1C protein (p.Ser567Gly).
PreventionGenetics, part of Exact Sciences RCV003396652 SCV004103338 uncertain significance JMJD1C-related disorder 2023-08-08 criteria provided, single submitter clinical testing The JMJD1C c.1699A>G variant is predicted to result in the amino acid substitution p.Ser567Gly. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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