ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys)

dbSNP: rs2135124873
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV002254492 SCV002525748 uncertain significance Combined oxidative phosphorylation defect type 24 2022-06-08 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Combined oxidative phosphorylation deficiency 24, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3).

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