ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.622_623del (p.Ile208fs)

gnomAD frequency: 0.00001  dbSNP: rs1259648157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953841 SCV002246422 pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2022-07-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1457594). This variant has not been reported in the literature in individuals affected with TRNT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile208Cysfs*6) in the TRNT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRNT1 are known to be pathogenic (PMID: 25193871).

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