Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000962307 | SCV001109383 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000962307 | SCV001783035 | uncertain significance | not provided | 2020-09-14 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate impaired autophagosomal degradation and decreased or defective transcriptional activity (Ferrari et al., 2016; Bouilly et al., 2011).; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33095795, 31589614, 31293321, 21837770, 27798098, 26848058, 25514101) |
H3Africa Consortium | RCV001777153 | SCV002014651 | benign | not specified | 2020-10-28 | criteria provided, single submitter | research | While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.061, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. |
OMIM | RCV000154190 | SCV000203838 | pathogenic | Premature ovarian failure 5 | 2014-12-16 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000154190 | SCV001142377 | likely pathogenic | Premature ovarian failure 5 | 2020-01-06 | no assertion criteria provided | curation | NM_001080413.3:c.271G>T in the NOBOX gene has an allele frequency of 0.028 in African subpopulation in the gnomAD database. The NOBOX c.271G>T (p.Gly91Trp) variant has been identified in five individuals affected with primary ovarian insufficiency (PMID: 25514101; 21837770). Functional studies of NOBOX variants revealed that p.Gly91Trp was deleterious for protein function (PMID: 25514101). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PS3; PP4; PS4_Supporting. |