Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000041972 | SCV001140292 | uncertain significance | Ataxia with oculomotor apraxia type 3 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
H3Africa Consortium | RCV001777146 | SCV002014654 | benign | not specified | 2020-10-28 | criteria provided, single submitter | research | While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.051, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. |
OMIM | RCV000041972 | SCV000065675 | pathogenic | Ataxia with oculomotor apraxia type 3 | 2012-02-01 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000041972 | SCV001142468 | uncertain significance | Ataxia with oculomotor apraxia type 3 | 2020-01-06 | no assertion criteria provided | curation | NM_001142633.2:c.1885C>T in the PIK3R5 gene has an allele frequency of 0.029 in African subpopulation in the gnomAD database. This variant has been detected in a consanguineous family with autosomal recessive ataxias, segregating with phenotypes (PMID: 22065524). We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: BS1, PP1, PP4. |