ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.222+7C>T

gnomAD frequency: 0.00001  dbSNP: rs777576855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422244 SCV001624787 likely benign not provided 2024-03-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001422244 SCV004149892 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing NDUFAF5: PM2, BP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237801 SCV005886330 uncertain significance not specified 2025-02-05 criteria provided, single submitter clinical testing Variant summary: NDUFAF5 c.222+7C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.1e-05 in 999816 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in NDUFAF5 causing Leigh Syndrome (1.1e-05 vs 0.00056), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.222+7C>T in individuals affected with Leigh Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1099838). Based on the evidence outlined above, the variant was classified as uncertain significance.

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