ClinVar Miner

Submissions for variant NM_182476.3(COQ6):c.189_191del (p.Lys64del)

dbSNP: rs746839544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001280951 SCV002572752 likely pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness 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: 0.001%). Inframe deletion located in a nonrepeat region is predicted to change the length of the protein and disrupt normal protein function. The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 2 similarly affected unrelated individuals (PMID: 28117207). The variant has been reported to be associated with COQ6-related disorder (ClinVar ID: VCV000992499 / PMID: 28117207). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV001280951 SCV001468321 pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness 2021-01-04 no assertion criteria provided literature only

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