ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) (rs142982022)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000321979 SCV000373620 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383441 SCV000373621 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000523777 SCV000617084 uncertain significance not provided 2019-01-17 criteria provided, single submitter clinical testing The G188D 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 24/10,406 alleles (0.23%) from individuals of African background in the ExAC dataset, with no homozygous control individuals reported (Lek et al., 2016). The G188D variant is also 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 G188D as a variant of uncertain significance.

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