ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) (rs121908985)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484109 SCV000566768 pathogenic not provided 2016-12-21 criteria provided, single submitter clinical testing The c.291delG variant in the NDUFS4 gene has been reported previously in several unrelated individuals with patients with mitochondrial complex I deficiency or Leigh disease who were homozygous for c.291delG or compound heterozygous for c.291delG and another pathogenic variant in the NDUFS4 gene (Budde et al., 2000; Assouline et al., 2012; Ortigoza-Escobar et al., 2016). This variant is reported to be a founder mutation in the North African population (Assouline et al., 2012). The deletion changes the Tryptophan codon at position 97 to a Stop codon, denoted W97X. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret c.291delG to be a pathogenic variant.
OMIM RCV000007291 SCV000027487 pathogenic Mitochondrial complex I deficiency, nuclear type 1 2000-08-18 no assertion criteria provided literature only

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