ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002810026 SCV003761253 pathogenic Iron-refractory iron deficiency anemia 2023-01-25 criteria provided, single submitter curation The homozygous p.Ser352Ter variant in TMPRSS6 was identified by our study in one individual with iron-refractory iron deficiency anemia (IRIDA) syndrome. The p.Ser352Ter variant has not been previously reported in individuals with iron-refractory iron deficiency anemia (IRIDA) syndrome. This variant was absent from large population studies. The affected individual identified by our study was a homozygote, which increases the likelihood that the p.Ser352Ter variant is pathogenic. This nonsense variant leads to a premature termination codon at position 352, which is predicted to lead to a truncated or absent protein. Loss of function is an established disease mechanism in autosomal recessive iron-refractory iron deficiency anemia (IRIDA) syndrome. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive iron-refractory iron deficiency anemia (IRIDA) syndrome. ACMG/AMP Criteria applied: PVS1, PM2_Supporting, PM3_Supporting (Richards 2015).

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