ClinVar Miner

Submissions for variant NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe)

gnomAD frequency: 0.00131  dbSNP: rs76863441
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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)
PreventionGenetics, part of Exact Sciences 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, BGI Genomics 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.

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