ClinVar Miner

Submissions for variant NM_000130.4(F5):c.1321C>T (p.Arg441Cys) (rs747006175)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000778946 SCV000899477 likely pathogenic Factor V deficiency 2019-02-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000778946 SCV000915368 uncertain significance Factor V deficiency 2018-12-05 criteria provided, single submitter clinical testing The F5 c.1321C>T (p.Arg441Cys) missense variant has been reported in two studies in which it is found in two individuals affected with factor V deficiency, including one each in a compound heterozygous and heterozygous state (Jin et al. 2009; Delev at al. 2009). The proband reported in Jin et al. (2009) inherited the p.Arg441Cys variant from his unaffected mother and the second missense variant from his unaffected father. The proband's unaffected child was also heterozygous for the p.Arg441Cys variant. Control data are unavailable for this variant, which is reported at a frequency of 0.000239 in the European (Finnish) population of the Genome Aggregation Database. Based on the limited evidence, the p.Arg441Cys variant is classified as a variant of unknown significance but suspicious for pathogenicity for factor V deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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