ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter)

gnomAD frequency: 0.00003  dbSNP: rs755097467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000266952 SCV000338132 uncertain significance not provided 2015-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000266952 SCV003524510 pathogenic not provided 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln259*) in the NDUFAF5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NDUFAF5 are known to be pathogenic (PMID: 26275793, 30473481, 32918965). This variant is present in population databases (rs755097467, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with NDUFAF5-related conditions. ClinVar contains an entry for this variant (Variation ID: 285203). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469234 SCV004192010 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 16 2024-01-12 criteria provided, single submitter clinical testing

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