ClinVar Miner

Submissions for variant NC_000006.11:g.(?_5431254)_(5653711_?)del

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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 RCV001983007 SCV002239703 pathogenic Combined oxidative phosphorylation defect type 14 2023-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FARS2 protein in which other variant(s) (p.Gly309Ser) have been determined to be pathogenic (PMID: 28043061, 28419689, 30177229). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FARS2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-6 of the FARS2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein.

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