ClinVar Miner

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

gnomAD frequency: 0.00011  dbSNP: rs151144350
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Total submissions: 4
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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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252155 SCV002523785 uncertain significance See cases 2020-09-02 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV000518994 SCV003261688 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 152 of the NDUFV1 protein (p.Arg152Cys). This variant is present in population databases (rs151144350, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with NDUFV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 451087). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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