ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys) (rs151144350)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518994 SCV000619734 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing The R152C variant in the NDUFV1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 3/9910 alleles (0.03%) from individuals of African background in the ExAC dataset, with no homozygous control individuals reported (Lek et al., 2016). The R152C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R152C as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765007 SCV000896190 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2018-10-31 criteria provided, single submitter clinical testing

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