ClinVar Miner

Submissions for variant NM_016013.4(NDUFAF1):c.457A>G (p.Lys153Glu)

gnomAD frequency: 0.00005  dbSNP: rs571701028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591678 SCV001815708 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 11 2020-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039483 SCV003717317 uncertain significance not specified 2021-10-22 criteria provided, single submitter clinical testing The c.457A>G (p.K153E) alteration is located in exon 2 (coding exon 1) of the NDUFAF1 gene. This alteration results from a A to G substitution at nucleotide position 457, causing the lysine (K) at amino acid position 153 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003120639 SCV003785636 uncertain significance not provided 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 153 of the NDUFAF1 protein (p.Lys153Glu). This variant is present in population databases (rs571701028, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NDUFAF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1213729). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt NDUFAF1 protein function with a negative predictive value of 80%. 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.

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