ClinVar Miner

Submissions for variant NM_016034.5(MRPS2):c.413G>A (p.Arg138His)

gnomAD frequency: 0.00003  dbSNP: rs758539748
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000626473 SCV000883151 pathogenic Combined oxidative phosphorylation deficiency 36 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Pathogenic, for Combined oxidative phosphorylation deficiency 36, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3-Very Strong => PS3 upgraded in strength to Very Strong (https://www.ncbi.nlm.nih.gov/pubmed/29576219).
Revvity Omics, Revvity RCV000626473 SCV003808937 uncertain significance Combined oxidative phosphorylation deficiency 36 2020-03-19 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000626473 SCV004024218 likely pathogenic Combined oxidative phosphorylation deficiency 36 criteria provided, single submitter clinical testing
OMIM RCV000626473 SCV000747128 pathogenic Combined oxidative phosphorylation deficiency 36 2018-05-03 no assertion criteria provided literature only

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