Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193078 | SCV001361666 | likely pathogenic | Leigh syndrome | 2019-08-08 | criteria provided, single submitter | clinical testing | Variant summary: NDUFS4 c.472_476dupAAGTC (p.Tyr160SerfsX31) causes a frameshift which results in an extension of the protein. The variant was absent in 250846 control chromosomes (gnomAD). c.472_476dupAAGTC has been reported in the literature in individuals affected with Leigh syndrome and mitochondrial complex I deficiency (Visch_2006, Assouline_2012). 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 >50%-90% of normal activity (Triepels_2001). 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. |
Baylor Genetics | RCV003469307 | SCV004197765 | likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1 | 2023-04-05 | criteria provided, single submitter | clinical testing |