ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2637_2638delinsGC (p.Ser880Pro)

dbSNP: rs1564618479
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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 RCV000694734 SCV000823192 uncertain significance Early myoclonic encephalopathy 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 880 of the JMJD1C protein (p.Ser880Pro). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This missense change has been observed in individual(s) with intracranial germ cell tumors (PMID: 24896186). ClinVar contains an entry for this variant (Variation ID: 573145). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The proline 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.

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