ClinVar Miner

Submissions for variant NM_001377299.1(NDUFS2):c.1342G>A (p.Val448Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002730957 SCV003012418 uncertain significance not provided 2022-04-03 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. 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. This variant has not been reported in the literature in individuals affected with NDUFS2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 448 of the NDUFS2 protein (p.Val448Ile).
Ambry Genetics RCV002730958 SCV003721881 uncertain significance Inborn genetic diseases 2021-05-27 criteria provided, single submitter clinical testing The c.1342G>A (p.V448I) alteration is located in exon 14 (coding exon 13) of the NDUFS2 gene. This alteration results from a G to A substitution at nucleotide position 1342, causing the valine (V) at amino acid position 448 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003348905 SCV004048817 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 6 2023-04-11 criteria provided, single submitter clinical testing

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