ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1001G>C (p.Arg334Thr)

gnomAD frequency: 0.00007  dbSNP: rs118203906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV000000678 SCV005088897 pathogenic Thrombophilia due to activated protein C resistance 2021-04-16 criteria provided, single submitter clinical testing This variant was previously reported in a proximal deep vein thrombosis patient of British origin and was also identified in his mother, who presented with abnormally low APC resistance value. It was not found in 600 other individuals presenting with thromboembolism or in a population of normal blood donors, suggesting that it is a rare factor V variant [PMID: 9454742]. This variant was previously represented as either p.R306T/Arg306Thr or F5 Cambridge in the cited articles. Another missense substitution affecting this residue p. Arg334Gly (referred as Arg306Gly FV Hong Kong) was previously identified in 2 thrombotic patients and 1 nonthrombotic subject of Chinese origin [PMID: 9454741]. Previously this variant was reported to affect the cleavage site responsible for the complete loss of F5 procoagulant activity suggesting its possible contribution to APC resistance [PMID: 30630204, 7989361]. However, invitro recombinant cells harboring this variant revealed intermediate APC resistance patterns between those of wild type factor V and other well-known F5 Leiden (Arg506) variant, suggesting low thrombotic risk association [PMID:12091344].
OMIM RCV000000678 SCV000020828 pathogenic Thrombophilia due to activated protein C resistance 1998-02-15 no assertion criteria provided literature only
GeneReviews RCV000000678 SCV002555544 not provided Thrombophilia due to activated protein C resistance no assertion provided literature only

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