ClinVar Miner

Submissions for variant NM_001377299.1(NDUFS2):c.1355-4C>G

gnomAD frequency: 0.00265  dbSNP: rs147235167
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000885375 SCV000513891 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Invitae RCV000885375 SCV001028815 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100981 SCV001257536 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Baylor Genetics RCV001100981 SCV001524810 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2020-03-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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