Total submissions: 2
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 |