ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.586G>A (p.Gly196Arg)

dbSNP: rs2105974048
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823484 SCV002072952 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 criteria provided, single submitter clinical testing The missense variant p.G196R in NDUFS1 (NM_005006.7) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.G196R variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.G196R missense variant is predicted to be damaging by both SIFT and PolyPhen2. The glycine residue at codon 196 of NDUFS1 is conserved in all mammalian species. The nucleotide c.586 in NDUFS1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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