ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.820_824dup (p.Val276fs)

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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 RCV003511460 SCV004295595 pathogenic Leigh syndrome 2025-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val276Thrfs*3) in the SURF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acid(s) of the SURF1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with mitochondrial complex IV deficiency (PMID: 16225813). ClinVar contains an entry for this variant (Variation ID: 2735360). This variant disrupts a region of the SURF1 protein in which other variant(s) (p.Ser282Cysfs*9) have been determined to be pathogenic (PMID: 9837813, 16326995, 18583168, 22488715, 23829769). 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.
Fulgent Genetics, Fulgent Genetics RCV005051338 SCV005681410 likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease type 4K 2024-01-28 criteria provided, single submitter clinical testing

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