ClinVar Miner

Submissions for variant NM_018122.5(DARS2):c.159_160del (p.Cys54fs)

gnomAD frequency: 0.00001  dbSNP: rs773706813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596893 SCV000708418 likely pathogenic not provided 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV000596893 SCV004468593 pathogenic not provided 2023-03-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 501895). This variant has not been reported in the literature in individuals affected with DARS2-related conditions. This variant is present in population databases (rs773706813, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Cys54Trpfs*44) in the DARS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DARS2 are known to be pathogenic (PMID: 17384640, 24566671). For these reasons, this variant has been classified as Pathogenic.

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