ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.183_186del (p.Leu62fs)

dbSNP: rs1433471292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193158 SCV001361831 likely pathogenic Leigh syndrome 2023-02-16 criteria provided, single submitter clinical testing Variant summary: SURF1 c.183_186delTCTT (p.Leu62SerfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.3e-05 in 150970 control chromosomes (gnomAD v3.1.2). c.183_186delTCTT has been reported in the literature in a compound heterozygous individuals affected with Leigh Syndrome (Lee_2012). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae RCV001193158 SCV004295605 pathogenic Leigh syndrome 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu62Serfs*9) 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 present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Leigh syndrome (PMID: 22488715). ClinVar contains an entry for this variant (Variation ID: 928764). For these reasons, this variant has been classified as Pathogenic.

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