ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.1224ACA[3] (p.Gln410dup)

dbSNP: rs2126038336
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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 RCV002039586 SCV002107600 uncertain significance Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2021-08-26 criteria provided, single submitter clinical testing This variant, c.1227_1229dup, results in the insertion of 1 amino acid(s) to the TRNT1 protein (p.Gln410dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TRNT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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