ClinVar Miner

Submissions for variant NM_005004.4(NDUFB8):c.189del (p.Glu63fs)

dbSNP: rs1264186261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002530585 SCV003460444 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 548133). This premature translational stop signal has been observed in individual(s) with mitochondrial complex I deficiency (PMID: 29429571). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu63Aspfs*35) in the NDUFB8 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NDUFB8 cause disease.
OMIM RCV000660874 SCV000783109 pathogenic Mitochondrial complex 1 deficiency, nuclear type 32 2018-12-13 no assertion criteria provided literature only

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