ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.1168_1173del (p.Gly390_Asp391del)

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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 RCV002664095 SCV003522548 uncertain significance Combined oxidative phosphorylation defect type 14 2025-01-21 criteria provided, single submitter clinical testing This variant, c.1168_1173del, results in the deletion of 2 amino acid(s) of the FARS2 protein (p.Gly390_Asp391del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs765670501, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2202486). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004783026 SCV005394915 uncertain significance not specified 2024-09-11 criteria provided, single submitter clinical testing Variant summary: FARS2 c.1168_1173delGGAGAC (p.Gly390_Asp391del) results in an in-frame deletion that is predicted to remove 2 amino acids from the encoded protein. The variant allele was found at a frequency of 1.2e-05 in 251122 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1168_1173delGGAGAC in individuals affected with FARS2-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2202486). Based on the evidence outlined above, the variant was classified as uncertain significance.

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