ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) (rs770035560)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000714938 SCV000845705 likely pathogenic Combined oxidative phosphorylation deficiency 14 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000714938 SCV001393460 uncertain significance Combined oxidative phosphorylation deficiency 14 2019-10-20 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 85 of the FARS2 protein (p.Pro85Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs770035560, ExAC 0.002%). This variant has been observed in combination with another FARS2 variant in an individual affected with juvenile onset refractory epilepsy and progressive myoclonus (PMID: 27095821). ClinVar contains an entry for this variant (Variation ID: 587669). This variant has been reported to affect FARS2 protein function (PMID: 27095821). 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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