ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.368C>G (p.Thr123Ser)

dbSNP: rs1278148249
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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 RCV000798616 SCV000938240 uncertain significance Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2018-10-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 123 of the TRNT1 protein (p.Thr123Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant has not been reported in the literature in individuals with TRNT1-related disease. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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