ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.128_130del (p.Glu43del)

dbSNP: rs876661297
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308107 SCV001497543 pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2025-01-12 criteria provided, single submitter clinical testing This variant, c.128_130del, results in the deletion of 1 amino acid(s) of the TRNT1 protein (p.Glu43del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs765128768, gnomAD 0.006%). This variant has been observed in individual(s) with clinical features of TRNT1-related disorders (PMID: 26494905, 28390992; internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as c.126_128delAGA. ClinVar contains an entry for this variant (Variation ID: 234932). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004591043 SCV005080627 pathogenic not provided 2024-01-17 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36819107, 26494905)
Mayo Clinic Laboratories, Mayo Clinic RCV004591043 SCV005409126 uncertain significance not provided 2023-11-09 criteria provided, single submitter clinical testing PM4
OMIM RCV000223678 SCV000280021 pathogenic Retinitis pigmentosa and erythrocytic microcytosis 2016-05-26 no assertion criteria provided literature only

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