ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.606_610dup (p.Ile204fs)

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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 RCV003060711 SCV003455250 pathogenic Leigh syndrome 2024-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile204Thrfs*6) in the SURF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SURF1 are known to be pathogenic (PMID: 10443880, 22488715, 24027061). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SURF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2147072). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005045225 SCV005681422 likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease type 4K 2024-01-15 criteria provided, single submitter clinical testing

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