ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.163C>A (p.Leu55Met)

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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 RCV002957444 SCV003271167 uncertain significance Early myoclonic encephalopathy 2022-10-25 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 55 of the JMJD1C protein (p.Leu55Met).
PreventionGenetics, part of Exact Sciences RCV004725423 SCV005340843 uncertain significance JMJD1C-related disorder 2024-06-06 no assertion criteria provided clinical testing The JMJD1C c.163C>A variant is predicted to result in the amino acid substitution p.Leu55Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0030% of alleles in individuals of Latino descent in gnomAD. 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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