ClinVar Miner

Submissions for variant NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=)

gnomAD frequency: 0.00023  dbSNP: rs145959971
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199124 SCV000251878 uncertain significance not provided 2021-09-28 criteria provided, single submitter clinical testing In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761488 SCV000891603 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2017-12-30 criteria provided, single submitter curation
Illumina Laboratory Services, Illumina RCV000761488 SCV001257258 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV000199124 SCV002154265 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change affects codon 404 of the NDUFS2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NDUFS2 protein. This variant also falls at the last nucleotide of exon 12, which is part of the consensus splice site for this exon. This variant is present in population databases (rs145959971, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with NDUFS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 214796). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Genome-Nilou Lab RCV003343694 SCV004048811 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 6 2023-04-11 criteria provided, single submitter clinical testing

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