ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.3G>T (p.Met1Ile)

dbSNP: rs2127642660
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378498 SCV001576075 pathogenic Combined oxidative phosphorylation defect type 14 2023-07-14 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the FARS2 mRNA. The next in-frame methionine is located at codon 151. This variant is not present in population databases (gnomAD no frequency). 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: 1067279). This variant disrupts a region of the FARS2 protein in which other variant(s) (p.Tyr144Cys) have been determined to be pathogenic (PMID: 22499341, 22833457, 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. For these reasons, this variant has been classified as Pathogenic.

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