Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001711067 | SCV001944724 | benign | not provided | 2020-02-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21834908, 19373214, 20080080, 20185515, 19034521, 9472966, 21606947, 21490708, 20926117, 16086290, 8675689, 11916011, 10194471, 9759612, 9412624, 16787988, 26595893, 26791069, 31589614, 11248283) |
Prevention |
RCV003982832 | SCV004796323 | benign | PLA2G7-related condition | 2019-06-18 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
OMIM | RCV000008376 | SCV000028584 | pathogenic | Platelet-activating factor acetylhydrolase deficiency | 2006-09-01 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000008376 | SCV001142358 | risk factor | Platelet-activating factor acetylhydrolase deficiency | 2020-01-06 | no assertion criteria provided | curation | NM_005084.3:c.835G>T in the PLA2G7 gene has an allele frequency of 0.056 in East Asian subpopulation in the gnomAD database, including 41 homozygous occurrences. This variant has been reported as a genetic risk factor for stroke, asthma and cardiovascular disease (PMID: 9412624, 10194471, 16787988). Taken together, we interprete this variant as risk factor variant. |