ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.632_642del (p.Glu211fs)

dbSNP: rs781954439
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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 RCV001926040 SCV002180124 pathogenic Leigh syndrome 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu211Alafs*5) 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 (rs781954439, gnomAD 0.007%). 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: 1413577). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005042510 SCV005681421 likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease type 4K 2024-02-01 criteria provided, single submitter clinical testing

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