ClinVar Miner

Submissions for variant NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln)

gnomAD frequency: 0.00001  dbSNP: rs771783839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626206 SCV000746850 uncertain significance Mitochondrial complex I deficiency 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533151 SCV003244953 uncertain significance not provided 2022-07-30 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 199 of the NDUFS3 protein (p.Arg199Gln). This variant is present in population databases (rs771783839, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NDUFS3-related conditions. ClinVar contains an entry for this variant (Variation ID: 523006). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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