ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.1619C>A (p.Pro540Gln)

dbSNP: rs201244227
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519641 SCV000619219 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing The P549Q variant in the TMPRSS6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P549Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P549Q variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P549Q as a variant of uncertain significance.

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