ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.1342+1G>A

gnomAD frequency: 0.00002  dbSNP: rs918426003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003731983 SCV004535211 pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with iron-refractory iron deficiency anemia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change affects a donor splice site in intron 11 of the TMPRSS6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TMPRSS6 are known to be pathogenic (PMID: 20232450, 25156943).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005356520 SCV005918270 likely pathogenic Iron-refractory iron deficiency anemia 2022-11-29 criteria provided, single submitter research

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