ClinVar Miner

Submissions for variant NM_021100.5(NFS1):c.215G>A (p.Arg72Gln)

gnomAD frequency: 0.00006  dbSNP: rs200592030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002568046 SCV003443365 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 72 of the NFS1 protein (p.Arg72Gln). This variant is present in population databases (rs200592030, gnomAD 0.01%). This missense change has been observed in individual(s) with infantile mitochondrial complex II/III deficiency (PMID: 24498631, 33457206). ClinVar contains an entry for this variant (Variation ID: 1171019). 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. 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.
Revvity Omics, Revvity RCV001523893 SCV003815895 uncertain significance Combined oxidative phosphorylation deficiency 52 2022-01-26 criteria provided, single submitter clinical testing
OMIM RCV001523893 SCV001733627 pathogenic Combined oxidative phosphorylation deficiency 52 2021-06-16 no assertion criteria provided literature only

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