ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter)

gnomAD frequency: 0.00001  dbSNP: rs137853123
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004791192 SCV005413406 pathogenic not provided 2024-04-08 criteria provided, single submitter clinical testing PM2_moderate, PM3, PVS1
GeneDx RCV004791192 SCV005419409 likely pathogenic not provided 2024-12-09 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 32581362, 25156943, 19377077, 29895660, 18596229, 24382527, 21783390)
Labcorp Genetics (formerly Invitae), Labcorp RCV004791192 SCV005840364 pathogenic not provided 2024-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg599*) in the TMPRSS6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMPRSS6 are known to be pathogenic (PMID: 20232450, 25156943). This variant is present in population databases (rs137853123, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with TMPRSS6-related conditions (PMID: 18596229, 32581362). ClinVar contains an entry for this variant (Variation ID: 1408). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001375844 SCV000021628 pathogenic Iron-refractory iron deficiency anemia 2008-09-01 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV000001473 SCV001162263 likely pathogenic Microcytic anemia no assertion criteria provided research

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