ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn)

gnomAD frequency: 0.00004  dbSNP: rs200841458
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281242 SCV001425066 likely pathogenic Nephrotic syndrome, type 9 2020-02-01 criteria provided, single submitter research
Precision Medicine Center, Zhengzhou University RCV001281242 SCV001593083 uncertain significance Nephrotic syndrome, type 9 criteria provided, single submitter research PM1,PM2,PP3
GeneDx RCV001575910 SCV001803001 uncertain significance not provided 2020-11-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32543055, 28204945, 28405841, 30470792, 29382012, 32957916)
3billion RCV001281242 SCV002572856 pathogenic Nephrotic syndrome, type 9 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.006%). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with COQ8B-related disorder (PMID: 28204945). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 4 similarly affected unrelated individuals (PMID: 28204945 , 28405841 , 30076350 , 33413146 , 33532864 , 34172776). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001281242 SCV005417198 likely pathogenic Nephrotic syndrome, type 9 criteria provided, single submitter clinical testing PM2_Supporting+PM3_Strong+PP4

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