ClinVar Miner

Submissions for variant NM_000446.7(PON1):c.575A>G (p.Gln192Arg)

gnomAD frequency: 0.42215  dbSNP: rs662
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001618211 SCV001842522 benign not provided 2019-05-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26122242, 25935173, 29229890, 11810302, 25036896, 24206655, 23625196, 22971504, 29409844, 30903418, 23538572, 23590198, 23054002, 24433930, 22800774, 26241956, 25153516, 15050299, 20646512, 21718208, 16239632, 19280995, 8098250, 21573798, 21465165, 19357718, 16914770, 18349088, 21783258, 19578796, 22750797, 21078685, 22796398, 20833162, 19269283, 22368149, 18708400, 23917967, 19846948, 18952040, 21820612, 20042177, 23007074, 21982484)
PreventionGenetics, part of Exact Sciences RCV003982841 SCV004797003 benign PON1-related disorder 2019-10-18 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 RCV000133464 SCV000034993 association Enzyme activity finding 2015-05-18 no assertion criteria provided literature only
OMIM RCV000014739 SCV000034994 risk factor Coronary artery disease, susceptibility to 2011-01-01 no assertion criteria provided literature only
OMIM RCV000014740 SCV000034995 risk factor Coronary artery spasm 2, susceptibility to 2011-01-01 no assertion criteria provided literature only

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