ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)

dbSNP: rs1445075330
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Total submissions: 5
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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 RCV001269113 SCV001448356 pathogenic Leigh syndrome 2020-11-25 criteria provided, single submitter clinical testing Variant summary: NDUFS4 c.466_470dupAAGTC (p.Lys158SerfsX33) causes a frameshift which results in an extension of the protein. The variant allele was found at a frequency of 4e-06 in 250804 control chromosomes. c.466_470dupAAGTC has been reported in the literature in individuals affected with Leigh Syndrome or complex I deficiency (Heuvel_1998, Vogel_2007). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in 10%-<30% of normal activity (Scacco_2003). 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 pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000007290 SCV002809908 likely pathogenic Mitochondrial complex I deficiency, nuclear type 1 2022-01-07 criteria provided, single submitter clinical testing
GeneDx RCV002508185 SCV002818082 pathogenic not provided 2024-02-27 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 18 amino acids are replaced with 32 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17383918, 28753212, 19255735, 12944388, 34849584, 9463323)
Baylor Genetics RCV000007290 SCV005056233 pathogenic Mitochondrial complex I deficiency, nuclear type 1 2024-03-28 criteria provided, single submitter clinical testing
OMIM RCV000007290 SCV000027486 pathogenic Mitochondrial complex I deficiency, nuclear type 1 2022-04-27 no assertion criteria provided literature only

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