ClinVar Miner

Submissions for variant NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys)

gnomAD frequency: 0.00004  dbSNP: rs387906958
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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 RCV002513197 SCV003443454 uncertain significance not provided 2022-12-06 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 211 of the NDUFAF1 protein (p.Arg211Cys). This variant is present in population databases (rs387906958, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of NDUFAF1-related conditions (PMID: 21931170). ClinVar contains an entry for this variant (Variation ID: 30624). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NDUFAF1 protein function. Studies have shown that this missense change alters NDUFAF1 gene expression (PMID: 21931170). 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000023599 SCV005919771 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 11 2023-06-29 criteria provided, single submitter research
OMIM RCV000023599 SCV000044890 pathogenic Mitochondrial complex 1 deficiency, nuclear type 11 2011-10-01 no assertion criteria provided literature only

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