ClinVar Miner

Submissions for variant NM_153609.3(TMPRSS6):c.1789C>T (p.Arg597Trp) (rs773272073)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778659 SCV000914992 uncertain significance Microcytic anemia 2018-01-29 criteria provided, single submitter clinical testing The TMPRSS6 c.1789C>T (p.Arg597Trp) variant has been reported in a compound heterozygous state in one individual with iron-refractory iron deficiency anemia (De Falco et al. 2014). Control data are unavailable for this variant, which is reported at a frequency of 0.000027 in the European (non-Finnish) population of the Genome Aggregation Database. The Arg597 residue is highly conserved and lies in the serine protease domain of the protein, and functional studies have demonstrated that the variant is associated with impaired autoproteolytic activation (De Falco et al. 2014). The evidence for this variant is limited. The p.Arg597Trp variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for iron-refractory iron deficiency anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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